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Genome mining approach reveals the CRISPR-Cas characteristics and diversity of targeting phages in Lactobacillus iners strains 基因组挖掘方法揭示了乳酸杆菌中CRISPR-Cas的特征和靶向噬菌体的多样性
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-07-03 DOI: 10.1016/j.genrep.2024.101968
Yousef Nami , Behnaz Dehghanzad , Mohaddeseh Rostampour , Bahman Panahi

This study utilized a genomic approach to investigate CRISPR-Cas systems, focusing on Lactobacillus iners strains, which are crucial for bacterial defense against bacteriophage attacks. Genome sequences were analyzed to understand the diversity, occurrence, and evolution of these systems. Spacer sequences within CRISPR arrays were examined to identify targeted phages. The research explored the evolutionary paths of spaceromes within each CRISPR array subtype, considering acquisition and deletion events influenced by phage pressure. Results revealed that approximately 50 % of L. iners strains possess complete CRISPR-Cas systems, predominantly subtype II-A and I-E. Homology analysis indicated that subtype I-E systems target a wider range of foreign phages compared to subtype II-A systems. Overall, the findings underscore the varied components and structure of CRISPR-Cas systems in L. iners strains, highlighting their role as active immune defenses against phages and foreign DNA.

本研究利用基因组学方法研究了CRISPR-Cas系统,重点研究了对细菌抵御噬菌体攻击至关重要的乳酸杆菌(Lactobacillus iners)菌株。对基因组序列进行了分析,以了解这些系统的多样性、发生和进化情况。对 CRISPR 阵列中的间隔序列进行了研究,以确定目标噬菌体。研究探索了每种 CRISPR 阵列亚型中间隔序列的进化路径,考虑了受噬菌体压力影响的获取和删除事件。结果表明,约 50% 的 L. iners 菌株拥有完整的 CRISPR-Cas 系统,主要是 II-A 和 I-E 亚型。同源性分析表明,与 II-A 亚型系统相比,I-E 亚型系统针对的外来噬菌体范围更广。总之,这些发现强调了L. iners菌株中CRISPR-Cas系统的不同成分和结构,突出了它们作为针对噬菌体和外来DNA的主动免疫防御系统的作用。
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引用次数: 0
The roles of miR-383 as a diagnostic and prognostic biomarker in human cancers miR-383 作为人类癌症诊断和预后生物标志物的作用
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-07-03 DOI: 10.1016/j.genrep.2024.101966
Reza Panahizadeh , Mohammadamin Vatankhah , Pourya Gholizadeh , Elnaz Faghfuri , Yasamin Pahlavan , Narges Soozangar , Kazem Nejati-Koshki

Emerging evidence indicates that Long non-coding RNAs (LncRNAs) and microRNAs (miRNAs) play crucial roles in the biology of cancerous cells. MicroRNAs are small non-coding RNAs, which play essential roles in the different cellular processes of various cancers. The miR-383 was initially found as a tumor suppressor and prognostic marker in different human cancers. The regulation of miR-383 and its target gene expression could be helpful in the prevention of tumorigenesis, improving cancer prognosis, and enhancing 5-year survival of patients with cancer. Current study suggests that miR-383 expression is implicated in the pathogenesis and in predicting molecular progression, cellular proliferation, and patient prognosis in various carcinomas. The up-regulation of miR-383 can reduce the prognosis of the cancers. MiR-383 exerts its tumor-suppressive effects in vitro by targeting specific proteins and molecules, which regulate the signaling pathways of cancer cells. Therefore, we aimed to discuss the different functions of miR-383 in various cancers and highlight its role in the signaling pathways regulation, that are involved in cancers.

新的证据表明,长非编码 RNA(LncRNA)和 microRNA(miRNA)在癌细胞的生物学中发挥着至关重要的作用。微小RNA是一种小型非编码RNA,在各种癌症的不同细胞过程中发挥着重要作用。最初发现的 miR-383 是不同人类癌症的肿瘤抑制因子和预后标志物。调控 miR-383 及其靶基因的表达有助于预防肿瘤发生,改善癌症预后,提高癌症患者的 5 年生存率。目前的研究表明,miR-383 的表达与各种癌症的发病机制和分子进展、细胞增殖及患者预后的预测有关。miR-383 的上调可降低癌症的预后。MiR-383 通过靶向调节癌细胞信号通路的特定蛋白和分子,在体外发挥抑制肿瘤的作用。因此,我们旨在讨论 miR-383 在各种癌症中的不同功能,并强调其在信号通路调控中的作用,这些信号通路与癌症有关。
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引用次数: 0
Thermophage triumph: Harnessing archaeal plasmids in the fight against tuberculosis 嗜热菌的胜利:利用古菌质粒抗击结核病
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-07-02 DOI: 10.1016/j.genrep.2024.101967
Kannan Kamala , Pitchiah Sivaperumal
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引用次数: 0
Multiple cytokinin elevates indirect regeneration potential of indica rice mature embryo 多种细胞分裂素提高了籼稻成熟胚的间接再生潜力
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-07-01 DOI: 10.1016/j.genrep.2024.101965
Monoj Sutradhar , Brijesh Kumar Singh , Subhasis Samanta , Md. Nasim Ali , Nirmal Mandal

The concept of producing high quality mature seed derived callus competent to genetic transformation followed by efficient full plant regeneration is not unique in rice. But the process is lacking in terms of regeneration efficiency, genotype dependency especially in indica rice. Further, most of the research has only been focused on elite indica cultivars and popular local varieties are neglected. Our extensive literature study also revealed that among all the factors responsible for higher rice regeneration efficiency, the combination, concentration, and type plant growth regulators (PGRs) are mostly responsible for indica rice genotypes. Hence, the present study is focused on standardization of popular local indica rice cultivars for callus induction and regeneration by tweaking the PGRs in culture media, according to their amenability. The plant regeneration potential was assessed on both traditional organogenesis frequency and morphology-based scoring matrix. This revealed the best suitable PGR concentration-combination for efficient organogenesis and the genotype Khitish to be most responsive for indirect regeneration (78.68 ± 1.50 %). The highly polymorphic SSR marker based clonal fidelity test also validated the absence of somaclonal variation among the regenerated plants. This study would be helpful in improving the regeneration potential in local indica rice varieties and genetic transformation studies.

在水稻中,生产高质量的成熟种子衍生胼胝体以进行遗传转化,然后进行高效的全株再生并不是一个独特的概念。但这一过程在再生效率和基因型依赖性方面存在不足,尤其是在籼稻方面。此外,大多数研究都只关注籼稻精英品种,而忽略了当地的流行品种。我们广泛的文献研究还表明,在所有导致水稻再生效率提高的因素中,植物生长调节剂(PGRs)的组合、浓度和类型对籼稻基因型的影响最大。因此,本研究的重点是根据籼稻品种的适应性,通过调整培养基中的植物生长调节剂,实现籼稻品种胼胝体诱导和再生的标准化。根据传统的器官发生频率和基于形态的评分矩阵对植物再生潜力进行了评估。结果表明,最适合高效器官发生的 PGR 浓度组合和基因型 Khitish 对间接再生的响应度最高(78.68 ± 1.50 %)。基于高度多态性 SSR 标记的克隆保真度测试也验证了再生植株之间不存在体细胞变异。这项研究将有助于提高当地籼稻品种的再生潜力和遗传转化研究。
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引用次数: 0
Revolutionizing genetic diagnostics: Innovative techniques for inherited disease detection 基因诊断的革命:遗传病检测的创新技术
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-06-27 DOI: 10.1016/j.genrep.2024.101963
Shradha Devi Dwivedi, Sachin Dev Yadav, Divya Sahu, Deependra Singh, Manju Rawat Singh

Genetic inheritance refers to the process by which traits and characteristics are passed from one generation to the next through the transmission of genetic information. This information is stored in the form of DNA (deoxyribonucleic acid), which is organized into structures called genes. Genetic hereditary disorders can be broadly classified into four categories on the basis of mode of inheritance and location of genes or chromosomes, they are: x-linked dominant, x-linked recessive, autosomal dominant and autosomal recessive. A specific diagnostic method is necessary for the diagnosis of inherited disorders. For instance, ARMPCR (amplification refractory mutation system polymerase chain reaction) is used to identify sickle cell anaemia, Breast cancer by crisper technology, and HIV (human immunodeficiency virus) can be detected by sandwich ELISA (enzyme linked immunosorbent assay) test. Mutation on FMR1 alleles in Fragile-X syndrome can be determined by TP-PCR (Triplet Repeat Primed-Polymerase Chain Reaction). Alteration on FBN1 gene in Marfan syndrome can be identified by a FISH (fluorescence in situ hybridization) test. All these tests are highly specific in nature, which depend upon genomic sequences, temperature, blood count and many more. To get a deeper comprehension of hereditary problems, we have expanded on a numerous methods and diagnostic criteria in this study. This study discusses many techniques for quickly and precisely identifying genetically inherited disorders.

遗传指的是性状和特征通过遗传信息的传递代代相传的过程。这些信息以 DNA(脱氧核糖核酸)的形式储存,被组织成称为基因的结构。根据遗传方式和基因或染色体的位置,遗传性疾病大致可分为四类,它们是X连锁显性遗传病、X连锁隐性遗传病、常染色体显性遗传病和常染色体隐性遗传病。遗传性疾病的诊断需要特定的诊断方法。例如,ARMPCR(扩增难治性突变系统聚合酶链反应)可用于鉴别镰状细胞性贫血,乳腺癌可通过crisper技术检测,HIV(人类免疫缺陷病毒)可通过夹心ELISA(酶联免疫吸附试验)检测。通过 TP-PCR(三重重复引物聚合酶链反应)可确定脆性-X 综合征中 FMR1 等位基因的突变。马凡综合征的 FBN1 基因变异可通过 FISH(荧光原位杂交)检测确定。所有这些检测都具有高度特异性,取决于基因组序列、体温、血细胞计数等因素。为了更深入地了解遗传性问题,我们在本研究中扩展了许多方法和诊断标准。本研究讨论了许多快速、准确识别遗传性疾病的技术。
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引用次数: 0
Detecting drug-resistant human cytomegalovirus mutations in liver transplant recipients: A study of the UL97 gene 检测肝移植受者的抗药性人类巨细胞病毒变异:对 UL97 基因的研究
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-06-26 DOI: 10.1016/j.genrep.2024.101962
Leila Jalilsani , Ramin Yaghobi , Bita Geramizadeh , Afsoon Afshari , Mohammad Hossein Karimi

Human cytomegalovirus (HCMV or HHV-5) is a member of the beta herpesvirus family and remains dormant for life after the initial infection. However, if conditions such as immunosuppression occur, the virus can become active again and lead to severe diseases. The incidence of disease in solid organ transplant (SOT) recipients is reduced by prophylactic use of ganciclovir (either intravenously or orally). This study aimed to determine the pattern of clinical mutations associated with the cytomegalovirus UL97 gene after treatment with ganciclovir and the effect of these mutations on disease progression in liver transplant recipients infected with Iranian HCMV strains. Six HCMV-positive liver transplant recipients were enrolled, comprising 3 (50.0 %) males and 3 (50.0 %) females. Sequence analysis and mutation detection were performed using Finch software (version 1.4.0) and the NCBI Nucleotide Blast database, whereas phylogenetic analysis was performed using MEGA X (version 10.0.5). Mann-Whitney U nonparametric test, Chi-square test, Spearman's correlation coefficient analysis, were employed for statistical analysis. The results of the study showed that two samples from two patients had mutations in the UL97 gene, and the viral load of the mutated samples decreased after administering antiviral medications. Furthermore, the phylogenetic tree demonstrated a close relationship between the Iranian HCMV strains and global reference sequences.

人类巨细胞病毒(HCMV 或 HHV-5)是乙型疱疹病毒家族的一员,初次感染后终身处于休眠状态。但是,如果出现免疫抑制等情况,病毒就会再次活跃起来,导致严重的疾病。预防性使用更昔洛韦(静脉注射或口服)可降低实体器官移植(SOT)受者的发病率。本研究旨在确定使用更昔洛韦治疗后巨细胞病毒 UL97 基因相关临床突变的模式,以及这些突变对感染伊朗 HCMV 株系的肝移植受者疾病进展的影响。该研究共招募了六名 HCMV 阳性肝移植受者,其中男性三人(50.0%),女性三人(50.0%)。使用 Finch 软件(1.4.0 版)和 NCBI 核苷酸 Blast 数据库进行序列分析和突变检测,并使用 MEGA X(10.0.5 版)进行系统发育分析。统计分析采用了 Mann-Whitney U 非参数检验、Chi-square 检验和 Spearman 相关系数分析。研究结果表明,两名患者的两个样本存在 UL97 基因突变,在服用抗病毒药物后,突变样本的病毒载量有所下降。此外,系统发生树显示伊朗 HCMV 株系与全球参考序列关系密切。
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引用次数: 0
Molecular characterization of head and neck infection causing bacterial communities using 16S rRNA in eastern Indian population 利用 16S rRNA 对印度东部人群中引起头颈部感染的细菌群落进行分子鉴定
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-06-26 DOI: 10.1016/j.genrep.2024.101959

Head and neck infections (HNI) are dangerous illnesses caused by a variety of bacterial species. The absence of enough surveillance as well as information regarding the bacteria prevalence in the infected area and the use of excessive antibiotics leads to multidrug-resistant (MDR) pathogens that cause serious health hazards. Thus, in the present study, a surveillance program was carried out in an eastern state of India, known as Odisha to decipher the pool of bacterial genus prevalence and their relationship with related species. The positive clinical specimens obtained through preliminary screening by Vitek 2 were further characterized by utilizing the 16S rRNA gene followed by population genetic and phylogenetic analysis. The investigation resulted four bacterial species, such as Staphylococcus aureus, Klebsiella pneumoniae, Acinetobacter baumannii, and Pseudomonas aeruginosa. According to population genetic factors, the haplotype (Hd) and nucleotide diversity (π) ranged from 0.558 to 0.828 and 0.03236 to 0.28428. The phylogeny analysis revealed that the present isolates were closely related to Chinese isolates. The prevalence of these pathogens within the eastern part of India and its transboundary potential revealed through phylogenetic analysis need further in-depth research to obtain a better therapeutic approach.

头颈部感染(HNI)是由多种细菌引起的危险疾病。由于缺乏足够的监测以及有关感染区细菌流行情况的信息,再加上过度使用抗生素,导致耐多药(MDR)病原体的产生,对健康造成严重危害。因此,在本研究中,我们在印度东部的奥迪沙邦开展了一项监测计划,以破译细菌属的流行情况及其与相关物种的关系。通过 Vitek 2 初步筛查获得的阳性临床标本利用 16S rRNA 基因进一步鉴定,然后进行群体遗传和系统发育分析。调查发现了四种细菌,如金黄色葡萄球菌、肺炎克雷伯菌、鲍曼不动杆菌和铜绿假单胞菌。根据群体遗传因子,单倍型(Hd)和核苷酸多样性(π)的范围分别为 0.558 至 0.828 和 0.03236 至 0.28428。系统进化分析表明,本分离物与中国分离物亲缘关系密切。这些病原体在印度东部地区的流行情况及其通过系统发育分析发现的跨境潜力需要进一步深入研究,以获得更好的治疗方法。
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引用次数: 0
Evaluation of the diagnostic role of circulating miR-16, miR-10b, and miR-21 expression in patients with nonalcoholic fatty liver disease 评估循环 miR-16、miR-10b 和 miR-21 表达在非酒精性脂肪肝患者中的诊断作用
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-06-26 DOI: 10.1016/j.genrep.2024.101964
Fatemeh Amani , Amirhossein Sahebkar , Seyed Hamid Aghaee-Bakhtiari , Mohammadreza Farzanehfar , Saeedeh Askarian , Reza Kazemi Oskuee

Non-alcoholic fatty liver disease (NAFLD) is a growing global health concern and is characterized by fat accumulation in the liver in the absence of significant alcohol consumption. However, current diagnostic tools, including liver biopsy and imaging techniques, have limitations in terms of accessibility, invasiveness, and sensitivity. Recently, microRNAs (miRNAs) have emerged as non-invasive biomarkers for the diagnosis of NAFLD. In this study, we investigated the expression of three microRNAs (miR-16, miR-10b, and miR-21) in patients with NAFLD across different disease stages compared with healthy subjects. First, miRNAs were extracted from serum samples collected from 34 healthy controls and 38 patients with NAFLD, including 20 with grade 1 and 18 with grade 2 of the disease. Subsequently, cDNA was synthesized from RNA, and miR-21, miR-16, and miR-10b expression was measured using RT-qPCR. The results revealed the downregulation of miR-16 in the early and advanced stages of NAFLD. The serum expression of miR-21 (p < 0 0.01) and miR-10b (p < 0.05) increased in the total NAFLD samples compared with the control group. Moreover, miR-10b expression was significantly higher in patients with stage 2 of NAFLD than in those with stage1 of NAFLD (p < 0.05), suggesting its potential as a biomarker to distinguish between the different grades of the disease. Our results revealed the clinical value of these miRNAs as non-invasive, sensitive, and stage-specific biomarkers for NAFLD. These findings suggest that the assessment of miR-16, miR-21, and miR-10b expression levels could serve as a potentially useful tool for the diagnosis of NAFLD presence and severity.

非酒精性脂肪肝(NAFLD)是一个日益受到全球关注的健康问题,其特点是在没有大量饮酒的情况下肝脏中脂肪堆积。然而,目前的诊断工具,包括肝活检和成像技术,在可及性、侵袭性和灵敏度方面都有局限性。最近,微小核糖核酸(miRNA)已成为诊断非酒精性脂肪肝的非侵入性生物标志物。在这项研究中,我们研究了非酒精性脂肪肝患者在不同疾病阶段与健康人相比的三种微RNA(miR-16、miR-10b和miR-21)的表达情况。首先,我们从 34 名健康对照者和 38 名非酒精性脂肪肝患者(包括 20 名 1 级患者和 18 名 2 级患者)的血清样本中提取了 miRNA。随后,从 RNA 中合成 cDNA,并采用 RT-qPCR 方法测定 miR-21、miR-16 和 miR-10b 的表达。结果显示,在非酒精性脂肪肝的早期和晚期,miR-16 的表达均出现下调。与对照组相比,非酒精性脂肪肝总样本中血清中miR-21(p < 0 0.01)和miR-10b(p < 0.05)的表达增加。此外,非酒精性脂肪肝二期患者的 miR-10b 表达明显高于非酒精性脂肪肝一期患者(p < 0.05),这表明 miR-10b 有可能成为区分疾病不同等级的生物标志物。我们的研究结果揭示了这些 miRNA 作为非侵袭性、敏感性和非酒精性脂肪肝分期特异性生物标志物的临床价值。这些研究结果表明,评估 miR-16、miR-21 和 miR-10b 的表达水平可作为诊断非酒精性脂肪肝的存在和严重程度的潜在有用工具。
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引用次数: 0
Comparative expression profile of selected genes in Venturia inaequalis Cooke (Wint.) infecting apple fruits and leaves 感染苹果果实和叶片的 Venturia inaequalis Cooke(Wint.)
IF 1 Q4 GENETICS & HEREDITY Pub Date : 2024-06-25 DOI: 10.1016/j.genrep.2024.101961
Suhani Bhagta , Sundaresha Siddappa , Vinay Bhardwaj , Anil Kant

Scab is a noxious fungal disease of apples (Malus domestica Borkh) in all apple producing regions caused by a host-specific phytopathogen Venturia inaequalis Cooke (Wint.). Its symptoms include black or brown lesions on leaves as well as on fruits, and causes fruit deformation. In this study, V. inaequalis was isolated from infected fruit samples and expression level of selected pathogenesis related genes in scab infected fruits and leaves was studied. The isolated fungus formed a brown coloured mat-like colony having septate mycelium and produced acute ovoid shaped conidia. Molecular characterization of the fungus was done by amplification and sequencing of internal transcribed spacer (ITS) and Cytochrome (CYP51A1) regions of the isolate. The Sanger sequencing of amplicons and sequence analysis using BLAST tool of the NCBI against GenBank database confirmed that the obtained sequence of ITS and CYP51A1 regions had 99.6 % and 98 % sequence identity with the reference V. inaequalis, respectively. The isolated strain of V. inaequalis was submitted in the fungal repository of Microbial Type Culture Collection (MTCC), India. The phylogenetic analysis of ITS region of the isolate revealed that the isolated strain of V. inaequalis was more closely related to Fusicladium eriobotryae compared to other Venturia species. The expression levels of pathogenesis related genes viz. CIN1, CE5 and VICE16 were higher in infected leaves as compared to infected fruits. Whereas expression of VICE12 and GH28 were higher in infected fruits compared to infected leaves. VICE4 gene showed equal level of expression during infection in both fruits and leaves, which was also maximum as compared to the control treatment. The transcript analysis of aforementioned genes of V. inaequalis gives the insights of the pathogen's expression profile during pathogenesis in fruits and leaves. This expression analysis can form a basis selecting pathogenesis related genes as targets for developing dsRNA expressing constructs with an aim to reduce RNAi mediated silencing of specific genes, in a futuristic biotechnological based solution to deal with apple scab disease.

疮痂病是所有苹果产区苹果(Malus domestica Borkh)的一种有害真菌病害,由寄主特异性植物病原 Venturia inaequalis Cooke (Wint.)引起。其症状包括叶片和果实上的黑色或褐色病斑,并导致果实畸形。本研究从受感染的果实样本中分离出了 Venturia inaequalis,并研究了受疮痂病感染的果实和叶片中特定致病相关基因的表达水平。分离出的真菌形成棕色垫状菌落,菌丝有隔膜,并产生急性卵球形分生孢子。通过扩增和测序分离物的内部转录间隔区(ITS)和细胞色素(CYP51A1)区域,对该真菌进行了分子鉴定。通过对扩增子进行 Sanger 测序,并使用 NCBI 的 BLAST 工具与 GenBank 数据库进行序列分析,证实所获得的 ITS 和 CYP51A1 区域序列与参考 V. inaequalis 的序列同一性分别为 99.6 % 和 98 %。分离出的 V. inaequalis 菌株已提交给印度微生物类型培养物保藏中心(MTCC)。分离菌株 ITS 区域的系统进化分析表明,与其他哨菌相比,分离出的 Inaequalis 菌株与 Fusicladium eriobotryae 的亲缘关系更近。与受感染的果实相比,CIN1、CE5 和 VICE16 等致病相关基因在受感染叶片中的表达水平更高。与受感染的叶片相比,受感染的果实中 VICE12 和 GH28 的表达量更高。VICE4 基因在感染期间在果实和叶片中的表达水平相同,与对照处理相比也最高。通过对上述 V. inaequalis 基因的转录本分析,可以了解病原体在果实和叶片中的致病过程中的表达谱。这种表达分析可以为选择与致病相关的基因作为开发 dsRNA 表达构建体的靶标奠定基础,目的是减少 RNAi 介导的特定基因沉默,从而以未来的生物技术为基础解决苹果疮痂病问题。
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引用次数: 0
Association of ORMDL3 single nucleotide polymorphic variants with bronchial asthma in Pathan population 帕坦人群中 ORMDL3 单核苷酸多态性变异与支气管哮喘的关系
IF 1 Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-06-21 DOI: 10.1016/j.genrep.2024.101958
Waqas Safir , Saba Altaf , Peerzada Fawad Ullah Jan , Nodia Shujaat , Fahim Ullah Khan , Atia Rehman , Samra Kousar , Muhammad Usman Ghani , Muhammad Farooq Sabar , Mariam Shahid

Background

Single nucleotide polymorphic variants of chromosome 17q21 potential candidate genes have been found to associate with asthma predisposition in many ethnically diverse populations. Identifying the potential SNPs, that are associated with asthma in a certain population, may lead to early diagnosis of genetic predisposition, thus reducing the treatment cost by timely management. This research work was planned to study the association of SNPs residing on chromosome 17q21, with asthma, in the Pathan population of Pakistan.

Methods

Sixty- two physician-diagnosed bronchial asthma cases and one hundred, age and gender-matched, control subjects of the Pathan ethnic group were enrolled for this study. Five SNPs from 17q21 were analyzed for their association with asthma by the Single Base Extension method using capillary-based electrophoresis. Allelic, dominant and recessive genotypic association analyses were done by PLINK and SHEsis plus version beta software, followed by Haploview v4.1 analysis of relevant haplotypes.

Results

Out of five studied SNPs, rs8076131 was significantly associated with bronchial asthma whereas rs9894164 tended to show a marginal association. Haplotype ‘TATT’ seemed to be a marginal risk factor associated with bronchial asthma in the studied population.

Conclusion

rs8076131 may be used as a predictive indicator of Bronchial Asthma development in risk allele carriers of Pathan ethnicity.

背景在许多不同种族的人群中,已发现染色体 17q21 潜在候选基因的单核苷酸多态性变异与哮喘易感性有关。在特定人群中找出与哮喘相关的潜在 SNPs,可能会导致遗传易感性的早期诊断,从而通过及时治疗降低治疗成本。本研究计划对巴基斯坦巴坦族人群中位于 17q21 染色体上的 SNPs 与哮喘的关联性进行研究。方法本研究招募了 62 名医生诊断的支气管哮喘病例和 100 名年龄和性别匹配的巴坦族对照受试者。采用毛细管电泳单碱基扩展法分析了 17q21 中的五个 SNPs 与哮喘的关系。结果在研究的五个 SNPs 中,rs8076131 与支气管哮喘有显著相关性,而 rs9894164 则显示出边缘相关性。在所研究的人群中,单倍型 "TATT "似乎是与支气管哮喘相关的一个边缘风险因素。
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引用次数: 0
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