首页 > 最新文献

Meta Gene最新文献

英文 中文
Evidence of stunting genes in Asian countries: A review 亚洲国家发育迟缓基因的证据:综述
IF 0.7 Q4 GENETICS & HEREDITY Pub Date : 2021-12-01 DOI: 10.1016/j.mgene.2021.100970
Wan Rohani Wan Taib, Imilia Ismail

Stunting defined as anthropometrically as height-for-age Z-score (HAZ) with less than 2 standard deviation (SD) has been observed more prevalent in children in developing countries that reflect the linear growth failure. It was estimated that the prevalence of stunting in Asian countries ranges from 30% - 69%. Stunting occurs due to the interplay of genetic and environmental factors. The susceptible genes involve in hormone signalling, paracrine factor, matric molecules, intercellular pathways and cellular processes of epiphyseal growth plate. Many genetic studies conducted among stunted children has elucidated the role of genes in affecting the attribute factors such as low birth weight, socio-economy, poor preventive health care and others. Whole genome sequencing revealed potential putative genes which involve in different pathways in related to retarded epiphyseal growth plate in various Asian countries such GHSR, GH1, GHRHR, STAT5B, IGF1, COMP and many more associated genes. The data emphasize that these potential genetic markers may provide better treatment in targeting the related pathophysiology in stunting development. In this current national implementation, genetic testing has not yet been permeated to the clinical practice for a standard evaluation since lack of genetic studies on stunting genes conducted in Asian countries, particularly Malaysia.

发育迟缓在发展中国家的儿童中更为普遍,在人体测量学上,发育迟缓被定义为年龄身高z分数(HAZ)小于2个标准差(SD),这反映了线性生长衰竭。据估计,亚洲国家的发育迟缓患病率在30%至69%之间。发育迟缓是遗传和环境因素相互作用的结果。易感基因涉及骨骺生长板的激素信号、旁分泌因子、基质分子、细胞间通路和细胞过程。在发育迟缓儿童中进行的许多遗传研究阐明了基因在影响诸如低出生体重、社会经济、不良预防保健和其他属性因素方面的作用。全基因组测序揭示了亚洲各国与骺端生长迟缓相关的可能参与不同途径的基因,如GHSR、GH1、GHRHR、STAT5B、IGF1、COMP等多种相关基因。这些数据强调,这些潜在的遗传标记可能为发育迟缓的相关病理生理提供更好的治疗。在目前的国家实施中,基因检测尚未渗透到临床实践中进行标准评估,因为在亚洲国家,特别是马来西亚,缺乏对发育迟缓基因的遗传研究。
{"title":"Evidence of stunting genes in Asian countries: A review","authors":"Wan Rohani Wan Taib,&nbsp;Imilia Ismail","doi":"10.1016/j.mgene.2021.100970","DOIUrl":"10.1016/j.mgene.2021.100970","url":null,"abstract":"<div><p>Stunting defined as anthropometrically as height-for-age <em>Z</em>-score (HAZ) with less than 2 standard deviation (SD) has been observed more prevalent in children in developing countries that reflect the linear growth failure. It was estimated that the prevalence of stunting in Asian countries ranges from 30% - 69%. Stunting occurs due to the interplay of genetic and environmental factors. The susceptible genes involve in hormone signalling, paracrine factor, matric molecules, intercellular pathways and cellular processes of epiphyseal growth plate. Many genetic studies conducted among stunted children has elucidated the role of genes in affecting the attribute factors such as low birth weight, socio-economy, poor preventive health care and others. Whole genome sequencing revealed potential putative genes which involve in different pathways in related to retarded epiphyseal growth plate in various Asian countries such <em>GHSR, GH1, GHRHR, STAT5B, IGF1, COMP</em> and many more associated genes. The data emphasize that these potential genetic markers may provide better treatment in targeting the related pathophysiology in stunting development. In this current national implementation, genetic testing has not yet been permeated to the clinical practice for a standard evaluation since lack of genetic studies on stunting genes conducted in Asian countries, particularly Malaysia.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"30 ","pages":"Article 100970"},"PeriodicalIF":0.7,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mgene.2021.100970","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49300985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
IL-1α, IL-1β and IL-1RN haplotypes are associated with bipolar I disorder and its characteristics: A pilot case-control study IL-1α, IL-1β和IL-1RN单倍型与双相I型及其特征相关:一项试点病例对照研究
IF 0.7 Q4 GENETICS & HEREDITY Pub Date : 2021-12-01 DOI: 10.1016/j.mgene.2021.100977
Ali Talaei , Fahimeh Afzaljavan , Andisheh Talaei

Background

Bipolar I disorder (BID) is a severe psychiatric disease with a confirmed strong hereditary pattern. However, the genetic component is not completely clear to design the diagnostic tests. In this pilot study, we aimed to evaluate the association of haplotypes, including four polymorphisms in the IL-1 region, with BID in a sample of the Iranian population.

Methods

In a case-control study, genotyping of 95 subjects (48 BID and 47 healthy samples) were performed using PCR-based methods for IL-1α (rs1800587), IL-1b +3954 (rs1143634), IL-1b −511 (rs16944) and IL-1RN (VNTR; rs2234663) loci. PHASE was used for haplotyping, and data were analyzed using SPSS 16.

Results

Out of 55 haplotypes and 121 diplotypes, three haplotypes including two SNPs (C-T of rs1800587-rs16944, p = 0.007, T-C of rs1143634-rs16944, p = 0.044 and T-A1 of rs16944-rs2234663, p = 0.030) and one haplotype including three SNPs (C-C-T of rs1800587-rs1143634-rs16944, p = 0.012) and one diplotype including two SNPs (C-T/C-T of rs1800587-rs16944, p = 0.032) were identified to be associated with the risk of the disease. In addition, several haplotypes and diplotypes were associated with the disease's features, including the age of onset, the type of first episode and the history of depressive episodes.

Conclusion

Our findings suggest a diagnostic role of the interleukin-1 region in the BID. The risky haplotypes may carry one or more susceptibility alleles, and the evaluation of their action will aid individual-level risk prediction.

背景双相情感障碍(BID)是一种严重的精神疾病,具有强烈的遗传模式。然而,设计诊断测试的基因成分并不完全清楚。在这项初步研究中,我们旨在评估伊朗人群样本中单倍型(包括IL-1区域的四种多态性)与BID的关系。方法在病例对照研究中,采用基于pcr的方法对95例受试者(48例BID和47例健康样本)进行IL-1α (rs1800587)、IL-1b +3954 (rs1143634)、IL-1b−511 (rs16944)和IL-1RN (VNTR)基因分型;rs2234663)位点。采用PHASE进行单倍型分析,数据采用SPSS 16进行分析。结果55个单倍型和121个双倍型中,3个单倍型包括2个snp (rs1800587-rs16944的C-T, p = 0.007, rs1143634-rs16944的T-C, p = 0.044, rs16944-rs2234663的T-A1, p = 0.030)、1个单倍型包括3个snp (rs1800587-rs1143634-rs16944的C-C-T, p = 0.012)和1个双倍型包括2个snp (rs1800587-rs16944的C-T/C-T, p = 0.032)与该病的发病风险相关。此外,几种单倍型和双倍型与该疾病的特征相关,包括发病年龄、首次发作类型和抑郁发作史。结论白细胞介素-1区域在BID中具有诊断作用。风险单倍型可能携带一个或多个易感等位基因,对其行为的评估将有助于个体水平的风险预测。
{"title":"IL-1α, IL-1β and IL-1RN haplotypes are associated with bipolar I disorder and its characteristics: A pilot case-control study","authors":"Ali Talaei ,&nbsp;Fahimeh Afzaljavan ,&nbsp;Andisheh Talaei","doi":"10.1016/j.mgene.2021.100977","DOIUrl":"10.1016/j.mgene.2021.100977","url":null,"abstract":"<div><h3>Background</h3><p>Bipolar I disorder (BID) is a severe psychiatric disease with a confirmed strong hereditary pattern. However, the genetic component is not completely clear to design the diagnostic tests. In this pilot study, we aimed to evaluate the association of haplotypes, including four polymorphisms in the IL-1 region, with BID in a sample of the Iranian population.</p></div><div><h3>Methods</h3><p>In a case-control study, genotyping of 95 subjects (48 BID and 47 healthy samples) were performed using PCR-based methods for IL-1α (rs1800587), IL-1b +3954 (rs1143634), IL-1b −511 (rs16944) and IL-1RN (VNTR; rs2234663) loci. PHASE was used for haplotyping, and data were analyzed using SPSS 16.</p></div><div><h3>Results</h3><p>Out of 55 haplotypes and 121 diplotypes, three haplotypes including two SNPs (C-T of <em>rs1800587-rs16944</em>, <em>p</em> = 0.007, T-C of <em>rs1143634-rs16944</em>, <em>p</em> = 0.044 and T-A1 of <em>rs16944-rs2234663</em>, <em>p</em> = 0.030) and one haplotype including three SNPs (C-C-T of <em>rs1800587-rs1143634-rs16944</em>, <em>p</em> = 0.012) and one diplotype including two SNPs (C-T/C-T of <em>rs1800587-rs16944</em>, <em>p</em> = 0.032) were identified to be associated with the risk of the disease. In addition, several haplotypes and diplotypes were associated with the disease's features, including the age of onset, the type of first episode and the history of depressive episodes.</p></div><div><h3>Conclusion</h3><p>Our findings suggest a diagnostic role of the interleukin-1 region in the BID. The risky haplotypes may carry one or more susceptibility alleles, and the evaluation of their action will aid individual-level risk prediction.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"30 ","pages":"Article 100977"},"PeriodicalIF":0.7,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2214540021001286/pdfft?md5=247c4f2167e2f00b042cdd58f1fb77ca&pid=1-s2.0-S2214540021001286-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49371368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Performing the comparative analysis to understand the functional roles of genes in different pathways of cardiomyopathy disease 通过比较分析了解基因在心肌病不同通路中的功能作用
IF 0.7 Q4 GENETICS & HEREDITY Pub Date : 2021-12-01 DOI: 10.1016/j.mgene.2021.100975
Evren Atak , Dilara Karaoğlu , Seda Serttürk , Duygu Koyuncu Irmak , Aslı Yenenler-Kutlu

Personalized medicine is one of the popular approaches in biological sciences. Due to the great attention in personalized medicine, there exists a need for health decision algorithms developed through high-level programming languages that already compromised the statistical analyses and numerical computations. Here, we present a tool that enables us to facilitate making research in the PubMed database by classifying the scientific literature from the published abstracts and then performed the comparative analysis to highlight the importance of gene-variant relationships in the decision steps. After retrieving related genes from literature, we performed pathway analysis with them by using computer-based tools to differentiate these sub-pathways in cardiomyopathy disease that are listed as hypertrophic, dilated, and arrhythmogenic right ventricular cardiomyopathy. Then, the pathogenic variants existing in these genes at each sub-pathway are retrieved, and the mechanistic interpretation about them has been gained to explain more about the differences in genes' mode of action. Lastly, the need of structure-based studies to explain the etiology of the disease has been emphasized by providing the protein structures of related genes as a guide. This study presents the importance of combining the text-mining approach with the bioinformatics tool in effective manner both for catching up with the updated literature and for revealing newly identified genes or pathways.

个性化医疗是生物科学领域的热门方法之一。由于对个性化医疗的高度关注,存在通过高级编程语言开发的健康决策算法的需求,这些语言已经损害了统计分析和数值计算。在这里,我们提出了一个工具,使我们能够通过从已发表的摘要中分类科学文献,然后进行比较分析,以突出基因-变异关系在决策步骤中的重要性,从而促进在PubMed数据库中进行研究。在从文献中检索相关基因后,我们使用基于计算机的工具对它们进行通路分析,以区分肥厚性、扩张性和致心律失常性右室心肌病中的这些亚通路。然后,检索这些基因在每个子通路上存在的致病变异,并获得它们的机制解释,以更多地解释基因作用方式的差异。最后,强调需要以结构为基础的研究,通过提供相关基因的蛋白质结构作为指导来解释疾病的病因。本研究提出了将文本挖掘方法与生物信息学工具有效地结合起来的重要性,既可以赶上最新的文献,也可以揭示新发现的基因或途径。
{"title":"Performing the comparative analysis to understand the functional roles of genes in different pathways of cardiomyopathy disease","authors":"Evren Atak ,&nbsp;Dilara Karaoğlu ,&nbsp;Seda Serttürk ,&nbsp;Duygu Koyuncu Irmak ,&nbsp;Aslı Yenenler-Kutlu","doi":"10.1016/j.mgene.2021.100975","DOIUrl":"10.1016/j.mgene.2021.100975","url":null,"abstract":"<div><p>Personalized medicine is one of the popular approaches in biological sciences. Due to the great attention in personalized medicine, there exists a need for health decision algorithms developed through high-level programming languages that already compromised the statistical analyses and numerical computations. Here, we present a tool that enables us to facilitate making research in the PubMed database by classifying the scientific literature from the published abstracts and then performed the comparative analysis to highlight the importance of gene-variant relationships in the decision steps. After retrieving related genes from literature, we performed pathway analysis with them by using computer-based tools to differentiate these sub-pathways in cardiomyopathy disease that are listed as hypertrophic, dilated, and arrhythmogenic right ventricular cardiomyopathy. Then, the pathogenic variants existing in these genes at each sub-pathway are retrieved, and the mechanistic interpretation about them has been gained to explain more about the differences in genes' mode of action. Lastly, the need of structure-based studies to explain the etiology of the disease has been emphasized by providing the protein structures of related genes as a guide. This study presents the importance of combining the text-mining approach with the bioinformatics tool in effective manner both for catching up with the updated literature and for revealing newly identified genes or pathways.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"30 ","pages":"Article 100975"},"PeriodicalIF":0.7,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2214540021001262/pdfft?md5=c00d7a2e6df9901b049e31cf9f1aacbb&pid=1-s2.0-S2214540021001262-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49648951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploration of potential circulating micro-RNA as biomarker for Alzheimer's disease 探索潜在的循环微rna作为阿尔茨海默病的生物标志物
IF 0.7 Q4 GENETICS & HEREDITY Pub Date : 2021-12-01 DOI: 10.1016/j.mgene.2021.100968
Mahsa Abolghasemi , Elham Poursaei , Soghra Bornehdeli , Dariush Shanehbandi , Milad Asadi , Mahsa Sadeghzadeh , Reza Naghdi Sadeh

Alzheimer's disease (AD) is considered a progressive and devastating neurodegenerative disorder which primarily effects elders. Due to the course of the disease and the involvement of different gene loci with complex genetic studies, it is possible to calculate the relative risk of individuals at risk. In this study, our aim was to investigate the serum transcript levels of candidate microRNAs (miRNAs), including miR-138, miR-128, and miR-107 in patients with AD and compared with that of normal individuals. In this research work, during the diagnosis process of AD, 50 blood samples were obtained from patients and 50 samples were collected from healthy individuals. Then total RNA of each sample was extracted and the expression levels of miRNAs were measured by Real-time PCR method. Our analysis indicated that the relative expression of all three miRNAs decreased in AD patients compared to the healthy samples. There was statistically significant in transcript levels of miR-138 (P = 0.047) and miR-107 (P = 0.004), while the levels of miR-128 had no significant difference between two groups (P = 0.075). The receiver operating characteristic (ROC) curve analysis indicated the potential of all miRNAs as biomarkers in AD. In conclusion, miR-138 and miR-107 can be used as a diagnostic or predictive biomarker in AD. In the case of miR-128, more research is needed. We suggest further studies and evaluation of changes in the expression of these miRNAs in larger populations.

阿尔茨海默病(AD)被认为是一种进行性和破坏性的神经退行性疾病,主要影响老年人。由于疾病的病程和涉及不同基因位点的复杂遗传研究,有可能计算出处于危险中的个体的相对风险。在这项研究中,我们的目的是研究AD患者血清中候选microRNAs (miRNAs)的转录水平,包括miR-138、miR-128和miR-107,并与正常人进行比较。在本研究工作中,在AD的诊断过程中,从患者身上采集了50份血样,从健康个体身上采集了50份血样。然后提取各样品的总RNA,采用Real-time PCR法检测mirna的表达水平。我们的分析表明,与健康样本相比,AD患者中所有三种mirna的相对表达量都有所下降。miR-138、miR-107转录本水平差异有统计学意义(P = 0.047), miR-128转录本水平差异无统计学意义(P = 0.075)。受试者工作特征(ROC)曲线分析显示了所有mirna作为AD生物标志物的潜力。总之,miR-138和miR-107可以作为AD的诊断或预测生物标志物。对于miR-128,还需要更多的研究。我们建议进一步研究和评估这些mirna在更大人群中的表达变化。
{"title":"Exploration of potential circulating micro-RNA as biomarker for Alzheimer's disease","authors":"Mahsa Abolghasemi ,&nbsp;Elham Poursaei ,&nbsp;Soghra Bornehdeli ,&nbsp;Dariush Shanehbandi ,&nbsp;Milad Asadi ,&nbsp;Mahsa Sadeghzadeh ,&nbsp;Reza Naghdi Sadeh","doi":"10.1016/j.mgene.2021.100968","DOIUrl":"10.1016/j.mgene.2021.100968","url":null,"abstract":"<div><p>Alzheimer's disease (AD) is considered a progressive and devastating neurodegenerative disorder which primarily effects elders. Due to the course of the disease and the involvement of different gene loci with complex genetic studies, it is possible to calculate the relative risk of individuals at risk. In this study, our aim was to investigate the serum transcript levels of candidate microRNAs (miRNAs), including miR-138, miR-128, and miR-107 in patients with AD and compared with that of normal individuals. In this research work, during the diagnosis process of AD, 50 blood samples were obtained from patients and 50 samples were collected from healthy individuals. Then total RNA of each sample was extracted and the expression levels of miRNAs were measured by Real-time PCR method. Our analysis indicated that the relative expression of all three miRNAs decreased in AD patients compared to the healthy samples. There was statistically significant in transcript levels of miR-138 (<em>P</em> = 0.047) and miR-107 (<em>P</em> = 0.004), while the levels of miR-128 had no significant difference between two groups (<em>P</em> = 0.075). The receiver operating characteristic (ROC) curve analysis indicated the potential of all miRNAs as biomarkers in AD. In conclusion, miR-138 and miR-107 can be used as a diagnostic or predictive biomarker in AD. In the case of miR-128, more research is needed. We suggest further studies and evaluation of changes in the expression of these miRNAs in larger populations.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"30 ","pages":"Article 100968"},"PeriodicalIF":0.7,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mgene.2021.100968","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41745589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Association of interferon-induced helicase (IFIH1) gene polymorphism rs1990760 with type two diabetes mellitus in Iraqi population 干扰素诱导解旋酶(IFIH1)基因多态性rs1990760与伊拉克人群2型糖尿病的关系
IF 0.7 Q4 GENETICS & HEREDITY Pub Date : 2021-12-01 DOI: 10.1016/j.mgene.2021.100952
Suhad Rasheed Majeed , Ali M. Omara , Dhafer A.F. Al-Koofee

Background

Type 2 diabetes mellitus (T2DM) is the most common type of diabetes. It is caused by inefficient insulin use, as well as the progressive loss of pancreatic β cells function. T2DM is the most common type of diabetes in the world. It is the major cause of death in adults and children, mainly of heart disease. The non-synonymous polymorphism rs1990760 is located in the HNF-3b binding site within exon 15 of the IFIH1 coding region. At codon 946, it encodes a change from alanine to threonine (Ala 946 Thr).

Methods

On 100 patients and 100 controls, a case-control study was conducted. After extraction of genomic DNA, the SNP rs 1,990,760 analysis was performed using Taq-man real time PCR (RT-PCR). Fasting blood sugar, insulin level, HOMA-IR and lipid profile were determined. Anthropometric parameters such as height, weight and BMI were calculated. T2DM risk was determined as an odds ratio.

Results

TT, CT genotype carriers were less likely to develop T2DM [OR = 0.38, CI 95% = 0.17–0.82, P = 0.01] and [OR = 0.40, CI 95% = 0.16–5.99, P = 0.04] respectively.

High density lipoprotein (HDL) is shown significant differences in codominant model among genotypes in the patient's group.

Conclusion

Interferon-induced helicase (IFIH1) gene polymorphism rs1990760 is involved in reduced risk of T2DM. In addition this SNP may play a role in the development of cardiovascular diseases by affecting HDL levels.

2型糖尿病(T2DM)是最常见的糖尿病类型。它是由胰岛素使用效率低下以及胰腺β细胞功能的逐渐丧失引起的。2型糖尿病是世界上最常见的糖尿病类型。它是成人和儿童死亡的主要原因,主要是心脏病。非同义多态性rs1990760位于IFIH1编码区外显子15内的HNF-3b结合位点。在密码子946处,它编码从丙氨酸到苏氨酸的变化(Ala 946 Thr)。方法对100例患者和100例对照者进行病例-对照研究。提取基因组DNA后,采用Taq-man real time PCR (RT-PCR)对SNP rs 1,990,760进行分析。测定空腹血糖、胰岛素水平、HOMA-IR和血脂。计算身高、体重、BMI等人体测量参数。T2DM风险以比值比确定。结果stt、CT基因型携带者发生T2DM的可能性较低[OR = 0.38, CI 95% = 0.17 ~ 0.82, P = 0.01]和[OR = 0.40, CI 95% = 0.16 ~ 5.99, P = 0.04]。高密度脂蛋白(HDL)在患者组基因型共显性模型中表现出显著差异。结论干扰素诱导解旋酶(IFIH1)基因多态性rs1990760与T2DM发病风险的降低有关。此外,这种SNP可能通过影响HDL水平在心血管疾病的发展中发挥作用。
{"title":"Association of interferon-induced helicase (IFIH1) gene polymorphism rs1990760 with type two diabetes mellitus in Iraqi population","authors":"Suhad Rasheed Majeed ,&nbsp;Ali M. Omara ,&nbsp;Dhafer A.F. Al-Koofee","doi":"10.1016/j.mgene.2021.100952","DOIUrl":"10.1016/j.mgene.2021.100952","url":null,"abstract":"<div><h3>Background</h3><p>Type 2 diabetes mellitus (T2DM) is the most common type of diabetes. It is caused by inefficient insulin use, as well as the progressive loss of pancreatic β cells function. T2DM is the most common type of diabetes in the world. It is the major cause of death in adults and children, mainly of heart disease. The non-synonymous polymorphism rs1990760 is located in the HNF-3b binding site within exon 15 of the <em>IFIH1</em> coding region. At codon 946, it encodes a change from alanine to threonine (Ala 946 Thr).</p></div><div><h3>Methods</h3><p>On 100 patients and 100 controls, a case-control study was conducted. After extraction of genomic DNA, the SNP rs 1,990,760 analysis was performed using Taq-man real time PCR (RT-PCR). Fasting blood sugar, insulin level, HOMA-IR and lipid profile were determined. Anthropometric parameters such as height, weight and BMI were calculated. T2DM risk was determined as an odds ratio.</p></div><div><h3>Results</h3><p>TT, CT genotype carriers were less likely to develop T2DM [OR = 0.38, CI 95% = 0.17–0.82, <em>P</em> = 0.01] and [OR = 0.40, CI 95% = 0.16–5.99, <em>P</em> = 0.04] respectively.</p><p>High density lipoprotein (HDL) is shown significant differences in codominant model among genotypes in the patient's group.</p></div><div><h3>Conclusion</h3><p>Interferon-induced helicase (<em>IFIH1</em>) gene polymorphism rs1990760 is involved in reduced risk of T2DM. In addition this SNP may play a role in the development of cardiovascular diseases by affecting HDL levels.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"30 ","pages":"Article 100952"},"PeriodicalIF":0.7,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mgene.2021.100952","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45303227","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Genetic association and epistatic interaction analysis of cluster of differentiation 14 and mannan-binding lectin 2 gene polymorphic variants in susceptibility to chronic periodontitis 甘露聚糖结合凝集素2基因多态性变异与慢性牙周炎易感性的遗传关联及上位互作分析
IF 0.7 Q4 GENETICS & HEREDITY Pub Date : 2021-12-01 DOI: 10.1016/j.mgene.2021.100963
Bushra Butul , Nusrath Fathima , Sandeep Kumar Vishwakarma , Aleem Ahmed Khan

Objective

To study the association and epistatic interactions of cluster of differentiation 14 (CD14) and mannan-binding lectin 2 (MBL2) gene polymorphic variants in Indian patients with chronic periodontitis (CP).

Design

We enrolled a total of 242 individuals (121 patients and 121 control subjects), age 35 to 60 years both irrespective of gender and identified CD14 (−159C > T, NC_000005.10:g.2569190:C > T) and MBL2 (codon 52, C > T, NM_000242:c.52C > T) polymorphic variants in peripheral blood samples. We also performed epistatic interaction analysis using multifactor dimensionality reduction (MDR) approach and predicted ribonucleic acid (RNA) structure of MBL2 gene using Genebee online RNA tool.

Results

Significantly increased frequency of ‘CT' heterozygote and variant allele ‘T' in chronic periodontitis patients was observed for both CD14 and MBL2 gene polymorphisms. MDR analysis showed approximately two-fold increased risk of CP. In silico analysis showed lack of transcription factor ETF (TEA domain family member 2) binding-site in presence of ‘T' allele ‘in CD14 (-159C > T) polymorphism. The secondary RNA structure prediction of MBL2 (codon 52, C > T) polymorphism showed structural variations having approximately similar free energies.

Conclusions

A dominant effect of genotype ‘CT' heterozygote and variant ‘T' allele observed for both CD14 and MBL2 gene polymorphisms in patients with CP. The presence of ‘T' allele also results in lack of transcription factor binding site at CD14 (-159C > T) and changes in arrangements of RNA molecules that may further affect expression of CD14 and MBL2 genes leading to increased susceptibility to CP pathogenesis.

目的探讨印度慢性牙周炎(CP)患者CD14与甘露聚糖结合凝集素2 (MBL2)基因多态性变异的相关性及上位性相互作用。我们共招募了242名受试者(121名患者和121名对照受试者),年龄在35至60岁之间,无论性别和CD14 (- 159C >T, NC_000005.10: g。2569190: C比;T)和MBL2(密码子52,C >T, NM_000242: c。52 c比;T)外周血样本中的多态变异。采用多因子降维(MDR)方法进行了互作分析,并使用Genebee在线RNA工具预测了MBL2基因的核糖核酸(RNA)结构。结果慢性牙周炎患者CD14和MBL2基因多态性的“CT”杂合子和变异等位基因“T”的频率显著增加。MDR分析显示,CP的风险增加了大约两倍。计算机分析显示,在CD14 (-159C >T)多态性。MBL2(密码子52,C >T)多态性表现出具有近似相似自由能的结构变化。结论基因型“CT”杂合子和变异的“T”等位基因对CP患者CD14和MBL2基因多态性均有显性作用,“T”等位基因的存在导致CD14 (-159C >T)和RNA分子排列的改变可能进一步影响CD14和MBL2基因的表达,从而增加对CP发病机制的易感性。
{"title":"Genetic association and epistatic interaction analysis of cluster of differentiation 14 and mannan-binding lectin 2 gene polymorphic variants in susceptibility to chronic periodontitis","authors":"Bushra Butul ,&nbsp;Nusrath Fathima ,&nbsp;Sandeep Kumar Vishwakarma ,&nbsp;Aleem Ahmed Khan","doi":"10.1016/j.mgene.2021.100963","DOIUrl":"10.1016/j.mgene.2021.100963","url":null,"abstract":"<div><h3>Objective</h3><p>To study the association and epistatic interactions of cluster of differentiation 14 (<em>CD14</em>) and mannan-binding lectin 2 (<em>MBL2</em>) gene polymorphic variants in Indian patients with chronic periodontitis (CP).</p></div><div><h3>Design</h3><p>We enrolled a total of 242 individuals (121 patients and 121 control subjects), age 35 to 60 years both irrespective of gender and identified <em>CD14</em> (−159C &gt; T, NC_000005.10:g.2569190:C &gt; T) and <em>MBL2</em> (codon 52, C &gt; T, NM_000242:c.52C &gt; T) polymorphic variants in peripheral blood samples. We also performed epistatic interaction analysis using multifactor dimensionality reduction (MDR) approach and predicted ribonucleic acid (RNA) structure of <em>MBL2</em> gene using Genebee online RNA tool.</p></div><div><h3>Results</h3><p>Significantly increased frequency of ‘CT' heterozygote and variant allele ‘T' in chronic periodontitis patients was observed for both <em>CD14</em> and <em>MBL2</em> gene polymorphisms. MDR analysis showed approximately two-fold increased risk of CP. In silico analysis showed lack of transcription factor ETF (TEA domain family member 2) binding-site in presence of ‘T' allele ‘in <em>CD14</em> (-159C &gt; T) polymorphism. The secondary RNA structure prediction of <em>MBL2</em> (codon 52, C &gt; T) polymorphism showed structural variations having approximately similar free energies.</p></div><div><h3>Conclusions</h3><p>A dominant effect of genotype ‘CT' heterozygote and variant ‘T' allele observed for both <em>CD14</em> and <em>MBL2</em> gene polymorphisms in patients with CP. The presence of ‘T' allele also results in lack of transcription factor binding site at <em>CD14</em> (-159C &gt; T) and changes in arrangements of RNA molecules that may further affect expression of <em>CD14</em> and <em>MBL2</em> genes leading to increased susceptibility to CP pathogenesis.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"30 ","pages":"Article 100963"},"PeriodicalIF":0.7,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mgene.2021.100963","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44604915","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The link between IL-6 rs2069840 SNP and cancer risk: Evidence from a systematic review and meta-analysis IL-6 rs2069840 SNP与癌症风险之间的联系:来自系统评价和荟萃分析的证据
IF 0.7 Q4 GENETICS & HEREDITY Pub Date : 2021-12-01 DOI: 10.1016/j.mgene.2021.100972
Md. Abdul Barek , Mobashera Begum , Furhatun Noor , Md. Abdul Aziz , Mohammad Safiqul Islam

Cancer is the second leading global health burden in terms of incidence and mortality. The association between IL-6 rs2069840 variant and cancer risk has been evaluated previously by genome-wide association studies and case-control studies, but the results remained controversial. Our present meta-analysis aimed to reveal the association of IL-6 rs2069840 polymorphism with cancer risk for the first time. Review Manager 5.4 software was used for performing the meta-analysis, and heterogeneity was assessed using I2. A total of 13 retrospective studies with 22,487 cases and 26,540 controls were selected for performing this meta-analysis. Our study showed that rs2069840 is not significantly associated with overall cancer risk. After stratification with population subgroups, no relationship was observed in Asians, Caucasians, Africans, or mixed populations. Subgroup analyses based on the cancer types revealed a significant correlation of rs2069840 with breast cancer in COD3 (OR = 1.13, p = 0.008), RM (OR = 1.10, p = 0.023), and OD (OR = 0.94, p = 0.029). A significant correlation was also found in COD1 (OR = 1.08, p = 0.020) and OD (OR = 1.07, p = 0.022) models for the development of other cancers (multiple myeloma, prostate cancer, gastric cancer). The findings of the present study suggest that IL-6 rs2069840 polymorphism is not linked with overall cancer risk. However, this polymorphism may be associated with breast cancer, multiple myeloma, prostate cancer, and gastric cancer.

就发病率和死亡率而言,癌症是全球第二大健康负担。IL-6 rs2069840变异与癌症风险之间的关系此前已通过全基因组关联研究和病例对照研究进行了评估,但结果仍存在争议。本荟萃分析旨在首次揭示IL-6 rs2069840多态性与癌症风险的关系。采用Review Manager 5.4软件进行meta分析,采用I2评估异质性。本次荟萃分析共纳入13项回顾性研究,共纳入22487例病例和26540例对照。我们的研究表明rs2069840与总体癌症风险没有显著相关性。在对人群亚群进行分层后,在亚洲人、高加索人、非洲人或混合人群中未观察到相关性。基于癌症类型的亚组分析显示,rs2069840与乳腺癌的COD3 (OR = 1.13, p = 0.008)、RM (OR = 1.10, p = 0.023)和OD (OR = 0.94, p = 0.029)具有显著相关性。COD1 (OR = 1.08, p = 0.020)和OD (OR = 1.07, p = 0.022)模型与其他癌症(多发性骨髓瘤、前列腺癌、胃癌)的发展也存在显著相关性。本研究的结果表明,IL-6 rs2069840多态性与总体癌症风险无关。然而,这种多态性可能与乳腺癌、多发性骨髓瘤、前列腺癌和胃癌有关。
{"title":"The link between IL-6 rs2069840 SNP and cancer risk: Evidence from a systematic review and meta-analysis","authors":"Md. Abdul Barek ,&nbsp;Mobashera Begum ,&nbsp;Furhatun Noor ,&nbsp;Md. Abdul Aziz ,&nbsp;Mohammad Safiqul Islam","doi":"10.1016/j.mgene.2021.100972","DOIUrl":"10.1016/j.mgene.2021.100972","url":null,"abstract":"<div><p>Cancer is the second leading global health burden in terms of incidence and mortality. The association between <em>IL-6</em> rs2069840 variant and cancer risk has been evaluated previously by genome-wide association studies and case-control studies, but the results remained controversial. Our present meta-analysis aimed to reveal the association of <em>IL-6</em> rs2069840 polymorphism with cancer risk for the first time. Review Manager 5.4 software was used for performing the meta-analysis, and heterogeneity was assessed using <em>I</em><sup>2</sup>. A total of 13 retrospective studies with 22,487 cases and 26,540 controls were selected for performing this meta-analysis. Our study showed that rs2069840 is not significantly associated with overall cancer risk. After stratification with population subgroups, no relationship was observed in Asians, Caucasians, Africans, or mixed populations. Subgroup analyses based on the cancer types revealed a significant correlation of rs2069840 with breast cancer in COD3 (OR = 1.13, <em>p</em> = 0.008), RM (OR = 1.10, <em>p</em> = 0.023), and OD (OR = 0.94, <em>p</em> = 0.029). A significant correlation was also found in COD1 (OR = 1.08, <em>p</em> = 0.020) and OD (OR = 1.07, <em>p</em> = 0.022) models for the development of other cancers (multiple myeloma, prostate cancer, gastric cancer<strong>).</strong> The findings of the present study suggest that <em>IL-6</em> rs2069840 polymorphism is not linked with overall cancer risk. However, this polymorphism may be associated with breast cancer, multiple myeloma, prostate cancer, and gastric cancer.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"30 ","pages":"Article 100972"},"PeriodicalIF":0.7,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mgene.2021.100972","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41425591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Association of VEGF polymorphisms and breast cancer susceptibility: Systemic review and meta-analysis VEGF多态性与乳腺癌易感性的关联:系统回顾和荟萃分析
IF 0.7 Q4 GENETICS & HEREDITY Pub Date : 2021-12-01 DOI: 10.1016/j.mgene.2021.100946
Y. Santhosh Kumar , Sindhu Varghese , Langeswaran Kulanthaivel , Gowtham Kumar Subbaraj

Aim

This meta-analysis aimed to evaluate the association between different VEGF gene polymorphisms (VEGF 2578 C/A, VEGF 936 C/T, VEGF 634 G/C, VEGF 460 T/C and VEGF 405 C/G).

Methodology

Meta-analysis was performed by collecting the results of 24 appropriate studies that were retrieved from PubMed central, Embase and Google Scholar. The statistical analyses were performed by using Review Manager 5.4 software.

Results

The Meta analysis results revealed that there is no significant association between VEGF 2578 C/A, VEGF 460 T/C, VEGF 634 G/C, and 405 G/C gene polymorphisms with the risk of breast cancer. Additionally, a significant association was identified in VEGF 936 C/T polymorphism with risk of breast cancer. No publication bias was observed.

Conclusion

The results revealed that VEGF 2578 C/A, VEGF 460 T/C, VEGF 634 G/C, 405 G/C gene polymorphisms were not associated with the risk of breast cancer whereas VEGF 936 C/T polymorphism maybe associated with breast cancer. Further well deliberated studies with bigger sample size are essential to evaluate the associations.

目的本荟萃分析旨在评价不同VEGF基因多态性(VEGF 2578 C/A、VEGF 936 C/T、VEGF 634 G/C、VEGF 460 T/C和VEGF 405 C/G)之间的相关性。方法通过收集从PubMed central、Embase和谷歌Scholar检索的24项适当研究的结果进行荟萃分析。采用Review Manager 5.4软件进行统计分析。结果Meta分析结果显示,VEGF 2578 C/A、VEGF 460 T/C、VEGF 634 G/C、VEGF 405 G/C基因多态性与乳腺癌发病风险无显著相关性。此外,VEGF 936c /T多态性与乳腺癌风险有显著关联。未观察到发表偏倚。结论VEGF 2578 C/A、VEGF 460 T/C、VEGF 634 G/C、VEGF 405 G/C基因多态性与乳腺癌发病无相关性,而VEGF 936 C/T基因多态性与乳腺癌发病有相关性。进一步的更大样本量的深思熟虑的研究对于评估这些关联是必不可少的。
{"title":"Association of VEGF polymorphisms and breast cancer susceptibility: Systemic review and meta-analysis","authors":"Y. Santhosh Kumar ,&nbsp;Sindhu Varghese ,&nbsp;Langeswaran Kulanthaivel ,&nbsp;Gowtham Kumar Subbaraj","doi":"10.1016/j.mgene.2021.100946","DOIUrl":"10.1016/j.mgene.2021.100946","url":null,"abstract":"<div><h3>Aim</h3><p>This meta-analysis aimed to evaluate the association between different VEGF gene polymorphisms (VEGF 2578 C/A, VEGF 936 C/T, VEGF 634 G/C, VEGF 460 T/C and VEGF 405 C/G).</p></div><div><h3>Methodology</h3><p>Meta-analysis was performed by collecting the results of 24 appropriate studies that were retrieved from PubMed central, Embase and Google Scholar. The statistical analyses were performed by using Review Manager 5.4 software.</p></div><div><h3>Results</h3><p>The Meta analysis results revealed that there is no significant association between VEGF 2578 C/A, VEGF 460 T/C, VEGF 634 G/C, and 405 G/C gene polymorphisms with the risk of breast cancer. Additionally, a significant association was identified in VEGF 936 C/T polymorphism with risk of breast cancer. No publication bias was observed.</p></div><div><h3>Conclusion</h3><p>The results revealed that VEGF 2578 C/A, VEGF 460 T/C, VEGF 634 G/C, 405 G/C gene polymorphisms were not associated with the risk of breast cancer whereas VEGF 936 C/T polymorphism maybe associated with breast cancer. Further well deliberated studies with bigger sample size are essential to evaluate the associations.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"30 ","pages":"Article 100946"},"PeriodicalIF":0.7,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mgene.2021.100946","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41850739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Plasminogenactivator inhibitor-1 polymorphism and risk of polycystic ovary syndrome in Turkish women 纤溶酶原激活物抑制剂-1多态性与土耳其妇女多囊卵巢综合征的风险
IF 0.7 Q4 GENETICS & HEREDITY Pub Date : 2021-12-01 DOI: 10.1016/j.mgene.2021.100959
Seher Polat , Yasin Şimşek

Objective

Polycystic ovary syndrome(PCOS) is a chronic systemic disease with a multifactorial etiology resulting from complex interactions of environmental and genetic factors rather than a local disease. There are recently identified several abnormalities related to the hemostatic and fibrinolytic systems. Therefore, the study is performed to investigate the association between plasminogen activator inhibitor-1(PAI-1) -844G > A rs2227631 polymorphism and risk of PCOS.

Subject and methods

Two hundred fourteen voluntary premenopausal women (104 healthy controls and 110 PCOS patients) of similar age were included in the study. All volunteers underwent a physical examination and biochemical hormonal evaluation. PAI-1-844G > A rs2227631 variant was analysed using polymerase chain reaction and restriction fragment length polymorphism (PCR–RFLP) method. Women were diagnosed with PCOS according to the criteria of the Androgen Excess-PCOS Society.

Results

In PAI-1-844G > A, “A” additive model, AG vs. GG (OR: 2.6; 95%Cl: 1.09–6.17 p = 0.94) or AA vs. GG (OR: 2.3; 95%Cl: 0.87–5.96 p = 0.094) genotype increased the PCOS risk almost 2.5-fold. “G” dominant model, AG + GG vs. AA (OR: 0.97; 95%Cl: 0.52–1.81 p = 0.93) was not associated with PCOS risk. “G” recessive model, GG vs. AG + AA genotype reduced the risk of PCOS 2.6-fold (OR: 0.39; 95%Cl: 0.17–0.93 p = 0.033). “A” dominant model, AG + AA vs. GG genotype increased the risk of PCOS 2.5-fold (OR: 2.5; 95%Cl: 1.08–5.83 p = 0.033).

Conclusion

The rs2227631 is related to PCOS risk in Turkish Women. The study indicated that the “AA” genotype was correlated with an increased risk of PCOS while the “GG” genotype reduced the PCOS risk in Turkish women.

目的多囊卵巢综合征(PCOS)是一种慢性全身性疾病,其病因是环境和遗传因素复杂相互作用的结果。最近发现了几种与止血和纤溶系统有关的异常。因此,本研究旨在探讨纤溶酶原激活物抑制剂-1(PAI-1) -844G >rs2227631多态性与PCOS风险的关系研究对象和方法214名年龄相近的自愿绝经前妇女(健康对照104名,多囊卵巢综合征患者110名)纳入研究。所有志愿者都进行了身体检查和生化激素评估。pai - 1 - 844 g比;采用聚合酶链反应和限制性片段长度多态性(PCR-RFLP)方法对rs2227631变异株进行分析。根据雄激素过量-多囊卵巢综合征协会的标准诊断为多囊卵巢综合征。结果:PAI-1-844G;A,“A”加性模型,AG vs. GG (OR: 2.6;95% cl: 1.09 - -6.17 p = 0.94)或AA和GG (or: 2.3;95%Cl: 0.87-5.96 p = 0.094)基因型使PCOS风险增加近2.5倍。“G”优势模型,AG + GG vs. AA (OR: 0.97;95%Cl: 0.52-1.81 p = 0.93)与PCOS风险无关。“G”隐性模型,GG与AG + AA基因型相比,PCOS风险降低2.6倍(OR: 0.39;95%Cl: 0.17-0.93 p = 0.033)。“A”显性模型,AG + AA型与GG基因型相比,PCOS的风险增加2.5倍(OR: 2.5;95%Cl: 1.08-5.83 p = 0.033)。结论rs2227631基因与土耳其女性PCOS风险相关。研究表明,“AA”基因型与PCOS风险增加相关,而“GG”基因型可降低土耳其女性PCOS风险。
{"title":"Plasminogenactivator inhibitor-1 polymorphism and risk of polycystic ovary syndrome in Turkish women","authors":"Seher Polat ,&nbsp;Yasin Şimşek","doi":"10.1016/j.mgene.2021.100959","DOIUrl":"10.1016/j.mgene.2021.100959","url":null,"abstract":"<div><h3>Objective</h3><p>Polycystic ovary syndrome(PCOS) is a chronic systemic disease with a multifactorial etiology resulting from complex interactions of environmental and genetic factors rather than a local disease. There are recently identified several abnormalities related to the hemostatic and fibrinolytic systems. Therefore, the study is performed to investigate the association between plasminogen activator inhibitor-1(PAI-1) -844G &gt; A rs2227631 polymorphism and risk of PCOS.</p></div><div><h3>Subject and methods</h3><p>Two hundred fourteen voluntary premenopausal women (104 healthy controls and 110 PCOS patients) of similar age were included in the study. All volunteers underwent a physical examination and biochemical hormonal evaluation. PAI-1-844G &gt; A rs2227631 variant was analysed using polymerase chain reaction and restriction fragment length polymorphism (PCR–RFLP) method. Women were diagnosed with PCOS according to the criteria of the Androgen Excess-PCOS Society.</p></div><div><h3>Results</h3><p>In PAI-1-844G &gt; A, “A” additive model, AG vs. GG (OR: 2.6; 95%Cl: 1.09–6.17 <em>p</em> <em>=</em> <em>0.94</em>) or AA vs. GG (OR: 2.3; 95%Cl: 0.87–5.96 <em>p</em> <em>=</em> <em>0.094</em>) genotype increased the PCOS risk almost 2.5-fold. “G” dominant model, AG + GG vs. AA (OR: 0.97; 95%Cl: 0.52–1.81 <em>p</em> <em>=</em> <em>0.93</em>) was not associated with PCOS risk. “G” recessive model, GG vs. AG + AA genotype reduced the risk of PCOS 2.6-fold (OR: 0.39; 95%Cl: 0.17–0.93 <em>p</em> <em>=</em> <em>0.033</em>). “A” dominant model, AG + AA vs. GG genotype increased the risk of PCOS 2.5-fold (OR: 2.5; 95%Cl: 1.08–5.83 <em>p</em> <em>=</em> <em>0.033</em>).</p></div><div><h3>Conclusion</h3><p>The rs2227631 is related to PCOS risk in Turkish Women. The study indicated that the “AA” genotype was correlated with an increased risk of PCOS while the “GG” genotype reduced the PCOS risk in Turkish women.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"30 ","pages":"Article 100959"},"PeriodicalIF":0.7,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mgene.2021.100959","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46460124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
A case-control study investigating the association of TP53 rs1042522 and CDH1 rs16260 polymorphisms with prostate cancer risk 一项研究TP53 rs1042522和CDH1 rs16260多态性与前列腺癌风险相关性的病例对照研究
IF 0.7 Q4 GENETICS & HEREDITY Pub Date : 2021-12-01 DOI: 10.1016/j.mgene.2021.100962
Rabeya Akter , Md. Siddiqul Islam , Md. Safiqul Islam , Md. Abdul Aziz , Md. Saddam Hussain , Md. Shalahuddin Millat , Mohammad Sarowar Uddin , Mohammad Safiqul Islam

Objectives

Prostate cancer is the most frequent non-cutaneous malignancy in men. Numerous genetic factors play a crucial role in the progression of prostate cancer. This study was undertaken to reveal the correlation of TP53 rs1042522 and CDH1 rs16260 polymorphisms with the risk of prostate cancer in the Bangladeshi population.

Materials and methods

We recruited 210 prostate cancer patients and 210 healthy controls for the investigation. Genotyping was conducted using the PCR-RFLP technique.

Results

In case of TP53 gene rs1042522, the association analysis revealed that all genetic models were linked with significantly increased risk for prostate cancer development (CG vs. CC: OR = 1.99, p = 0.001; GG vs. CC: OR = 4.82, p < 0.00; CG vs. CC + GG: OR = 1.52, p = 0.041; CG + GG vs. CC: OR = 2.44, p < 0.00; GG vs. CC + CG: OR = 3.64, p = 0.00; G vs. C: OR = 2.32, p < 0.00). Again, the second variant rs16260 in CDH1 gene also showed significantly enhanced association in all genetic models for the development of prostate cancer (CA vs. CC: OR = 2.20, p < 0.00; AA vs. CC: OR = 2.77, p = 0.012; CA vs. CC + AA: OR = 1.98, p = 0.001; CA + AA vs. CC: OR = 2.29, p = 0.00; A vs. C: OR = 1.99, p < 0.00) except the AA vs. CC + CA model.

Conclusions

Our study indicates a significant association of TP53 rs1042522 and CDH1 rs16260 polymorphisms with increased prostate cancer risk in the Bangladeshi population. However, replication studies are required in different populations to validate our findings.

目的前列腺癌是男性最常见的非皮肤恶性肿瘤。许多遗传因素在前列腺癌的发展中起着至关重要的作用。本研究旨在揭示孟加拉国人群中TP53 rs1042522和CDH1 rs16260多态性与前列腺癌风险的相关性。材料与方法我们招募了210名前列腺癌患者和210名健康对照进行调查。采用PCR-RFLP技术进行基因分型。结果在TP53基因rs1042522的病例中,相关分析显示,所有遗传模型均与前列腺癌发展风险显著增加相关(CG vs. CC: OR = 1.99, p = 0.001;GG vs. CC: OR = 4.82, p <0.00;CG vs. CC + GG: OR = 1.52, p = 0.041;CG + GG vs. CC: OR = 2.44, p <0.00;GG vs. CC + CG: OR = 3.64, p = 0.00;G vs. C: OR = 2.32, p <0.00)。同样,CDH1基因的第二变体rs16260在所有遗传模型中也显示出与前列腺癌发展的显著增强关联(CA vs. CC: OR = 2.20, p <0.00;AA vs. CC: OR = 2.77, p = 0.012;CA vs. CC + AA: OR = 1.98, p = 0.001;CA + AA vs. CC: OR = 2.29, p = 0.00;A vs. C: OR = 1.99, p <0.00), AA与CC + CA模型除外。结论在孟加拉国人群中,TP53 rs1042522和CDH1 rs16260多态性与前列腺癌风险增加存在显著相关性。然而,需要在不同人群中进行重复研究来验证我们的发现。
{"title":"A case-control study investigating the association of TP53 rs1042522 and CDH1 rs16260 polymorphisms with prostate cancer risk","authors":"Rabeya Akter ,&nbsp;Md. Siddiqul Islam ,&nbsp;Md. Safiqul Islam ,&nbsp;Md. Abdul Aziz ,&nbsp;Md. Saddam Hussain ,&nbsp;Md. Shalahuddin Millat ,&nbsp;Mohammad Sarowar Uddin ,&nbsp;Mohammad Safiqul Islam","doi":"10.1016/j.mgene.2021.100962","DOIUrl":"10.1016/j.mgene.2021.100962","url":null,"abstract":"<div><h3>Objectives</h3><p>Prostate cancer is the most frequent non-cutaneous malignancy in men. Numerous genetic factors play a crucial role in the progression of prostate cancer. This study was undertaken to reveal the correlation of <em>TP53</em> rs1042522 and <em>CDH1</em> rs16260 polymorphisms with the risk of prostate cancer in the Bangladeshi population.</p></div><div><h3>Materials and methods</h3><p>We recruited 210 prostate cancer patients and 210 healthy controls for the investigation. Genotyping was conducted using the PCR-RFLP technique.</p></div><div><h3>Results</h3><p>In case of <em>TP53</em> gene rs1042522, the association analysis revealed that all genetic models were linked with significantly increased risk for prostate cancer development (CG vs. CC: OR = 1.99, <em>p</em> = 0.001; GG vs. CC: OR = 4.82, <em>p</em> &lt; 0.00; CG vs. CC + GG: OR = 1.52, <em>p</em> = 0.041; CG + GG vs. CC: OR = 2.44, <em>p</em> &lt; 0.00; GG vs. CC + CG: OR = 3.64, <em>p</em> = 0.00; G vs. C: OR = 2.32, <em>p</em> &lt; 0.00). Again, the second variant rs16260 in <em>CDH1</em> gene also showed significantly enhanced association in all genetic models for the development of prostate cancer (CA vs. CC: OR = 2.20, <em>p</em> &lt; 0.00; AA vs. CC: OR = 2.77, <em>p</em> = 0.012; CA vs. CC + AA: OR = 1.98, <em>p</em> = 0.001; CA + AA vs. CC: OR = 2.29, <em>p</em> = 0.00; A vs. C: OR = 1.99, <em>p</em> &lt; 0.00) except the AA vs. CC + CA model.</p></div><div><h3>Conclusions</h3><p>Our study indicates a significant association of <em>TP53</em> rs1042522 and <em>CDH1</em> rs16260 polymorphisms with increased prostate cancer risk in the Bangladeshi population. However, replication studies are required in different populations to validate our findings.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"30 ","pages":"Article 100962"},"PeriodicalIF":0.7,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mgene.2021.100962","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48009983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
期刊
Meta Gene
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1