Pub Date : 2024-04-02DOI: 10.1186/s43042-024-00487-5
Iraj Zareban, Zahra Oudi-Akbari, Mohammad Saeed Jadgal, Hossein Ansari, Jamshid Hosseinzehi Zamani
Thalassemia is one of the most common chronic diseases, which cause many problems for the patients, families, and health system. The aim of this study was to evaluate the effectiveness of the application of an educational program based on the Theory of Planned Behavior in adopting preventive behaviors from thalassemia. This randomized controlled trial study was associated with the participation of 160 mothers of children suffering from thalassemia major, who were divided into two groups including intervention and control. Demographic information, knowledge, and data related to the constructs of the Theory of Planned Behavior were collected. Data were analyzed using SPSS16 software and descriptive and analytical tests. The mean scores of perceived behavioral control, behavioral intention, and behavior in the intervention group in the pre-intervention phase were 9.83 ± 1.45, 9.1 ± 21.32, and 2.1 ± 18.42, respectively. The stage after the intervention was increased to 12.00 ± 0.00, 11.51 ± 0.59, and 5 ± 0.37.95, respectively, and the difference of the means in the two stages was significant (P value < 0.0001). But no significant change was observed in the control group (P value > 0.05). The results of the study showed the effect of the training intervention based on the Theory of Planned Behavior on the promotion of preventive behaviors in mothers of children suffering from thalassemia major.
{"title":"Effectiveness of the application of an educational program based on the Theory of Planned Behavior (TPB) in adopting preventive behaviors among mothers who have thalassemia children in Iran: a randomized controlled trial","authors":"Iraj Zareban, Zahra Oudi-Akbari, Mohammad Saeed Jadgal, Hossein Ansari, Jamshid Hosseinzehi Zamani","doi":"10.1186/s43042-024-00487-5","DOIUrl":"https://doi.org/10.1186/s43042-024-00487-5","url":null,"abstract":"Thalassemia is one of the most common chronic diseases, which cause many problems for the patients, families, and health system. The aim of this study was to evaluate the effectiveness of the application of an educational program based on the Theory of Planned Behavior in adopting preventive behaviors from thalassemia. This randomized controlled trial study was associated with the participation of 160 mothers of children suffering from thalassemia major, who were divided into two groups including intervention and control. Demographic information, knowledge, and data related to the constructs of the Theory of Planned Behavior were collected. Data were analyzed using SPSS16 software and descriptive and analytical tests. The mean scores of perceived behavioral control, behavioral intention, and behavior in the intervention group in the pre-intervention phase were 9.83 ± 1.45, 9.1 ± 21.32, and 2.1 ± 18.42, respectively. The stage after the intervention was increased to 12.00 ± 0.00, 11.51 ± 0.59, and 5 ± 0.37.95, respectively, and the difference of the means in the two stages was significant (P value < 0.0001). But no significant change was observed in the control group (P value > 0.05). The results of the study showed the effect of the training intervention based on the Theory of Planned Behavior on the promotion of preventive behaviors in mothers of children suffering from thalassemia major.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140593928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-30DOI: 10.1186/s43042-024-00518-1
Changsheng Chen, Ke Wang, Yu Zhang, Yixin Qi, Chong Shen, Zhe Zhang, Z. Zhang, Han Yang, Hailong Hu
{"title":"Prognosis and immunological characteristics of HDAC family in pan-cancer through integrative multi-omic analysis","authors":"Changsheng Chen, Ke Wang, Yu Zhang, Yixin Qi, Chong Shen, Zhe Zhang, Z. Zhang, Han Yang, Hailong Hu","doi":"10.1186/s43042-024-00518-1","DOIUrl":"https://doi.org/10.1186/s43042-024-00518-1","url":null,"abstract":"","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140361495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cognitive impairment and depression are two common mental health conditions affecting millions worldwide. CI and depression both have complex etiology and multiple genetic and environmental factors are thought to play a role in their onset and progression. Further, CI and depression often occur as comorbidities, indicating an overlap in their etiologies. The likelihood of developing major depressive illness and CI, the prognosis in response to treatments, and the possibility of adverse reactions to antidepressant medicines are all significantly influenced by genetics. Looking at the limited literature on the role of ACE I/D polymorphism in CI and depression among Indian populations, the present population-based pilot study was conducted with the aim to understand the association of ACE I/D polymorphism with CI and depression among North Indian adults. The present study was conducted among 195 individuals aged 30 years and above. The results of the present study show that the distributions of some of the studied sociodemographic variables, viz., gender, educational status, and employment status, were significantly different between those with and without CI, where a higher percentage of females, nonliterate and unemployed participants were in CI group than in the without CI group (p value < 0.05). For cognitive impairment, none of the models showed a statistically significant association with ACE I/D genotypes or alleles. For depression, two of the models showed a statistically significant association with ACE I/D genotypes or alleles. The ID + DD (D allele) and DD genotypes of ACE I/D polymorphism, with II as a reference, were found to pose a significantly reduced risk for depression (p value < 0.05). In conclusion, the findings of this study suggest that the D allele of ACE I/D gene polymorphism poses a potentially reduced risk of depression among North Indian adults. In the case of cognitive impairment, the findings suggest that gender, educational status, and employment status may be important factors to consider when assessing the risk of cognitive impairment. However, more research is needed to better understand the complex interplay between sociodemographic and genetic factors and cognitive impairment and depression.
认知障碍和抑郁症是两种常见的精神疾病，影响着全球数百万人。认知障碍和抑郁症的病因都很复杂，多种遗传和环境因素被认为在其发病和发展过程中起了作用。此外，CI 和抑郁症经常出现合并症，这表明它们的病因存在重叠。患重度抑郁症和 CI 的可能性、对治疗反应的预后以及对抗抑郁药物产生不良反应的可能性都受到遗传学的重大影响。鉴于有关 ACE I/D 多态性在印度人群中对 CI 和抑郁症的作用的文献有限，本研究以人群为基础，旨在了解北印度成年人中 ACE I/D 多态性与 CI 和抑郁症的关系。本研究在 195 名 30 岁及以上的人群中进行。研究结果表明，一些研究的社会人口学变量，即性别、教育状况和就业状况的分布在有 CI 和无 CI 的人群中存在显著差异，其中女性、文盲和失业者在有 CI 组中的比例高于无 CI 组（P 值小于 0.05）。在认知障碍方面，没有一个模型显示与 ACE I/D 基因型或等位基因有统计学意义的关联。在抑郁症方面，有两个模型显示与 ACE I/D 基因型或等位基因有统计学意义的关联。发现 ACE I/D 多态性的 ID + DD（D 等位基因）和 DD 基因型（以 II 为参照）可显著降低患抑郁症的风险（P 值 < 0.05）。总之，本研究结果表明，ACE I/D 基因多态性的 D 等位基因可能会降低北印度成年人患抑郁症的风险。在认知障碍方面，研究结果表明，性别、教育状况和就业状况可能是评估认知障碍风险时需要考虑的重要因素。然而，要更好地理解社会人口和遗传因素与认知障碍和抑郁之间复杂的相互作用，还需要进行更多的研究。
{"title":"ACE I/D polymorphism in cognitive impairment and depression among North Indian adults: a pilot study","authors":"Apoorva Sharma, Vineet Chaudhary, Mamta Kumari Thakur, Naorem Kiranmala Devi, Kallur Nava Saraswathy","doi":"10.1186/s43042-024-00515-4","DOIUrl":"https://doi.org/10.1186/s43042-024-00515-4","url":null,"abstract":"Cognitive impairment and depression are two common mental health conditions affecting millions worldwide. CI and depression both have complex etiology and multiple genetic and environmental factors are thought to play a role in their onset and progression. Further, CI and depression often occur as comorbidities, indicating an overlap in their etiologies. The likelihood of developing major depressive illness and CI, the prognosis in response to treatments, and the possibility of adverse reactions to antidepressant medicines are all significantly influenced by genetics. Looking at the limited literature on the role of ACE I/D polymorphism in CI and depression among Indian populations, the present population-based pilot study was conducted with the aim to understand the association of ACE I/D polymorphism with CI and depression among North Indian adults. The present study was conducted among 195 individuals aged 30 years and above. The results of the present study show that the distributions of some of the studied sociodemographic variables, viz., gender, educational status, and employment status, were significantly different between those with and without CI, where a higher percentage of females, nonliterate and unemployed participants were in CI group than in the without CI group (p value < 0.05). For cognitive impairment, none of the models showed a statistically significant association with ACE I/D genotypes or alleles. For depression, two of the models showed a statistically significant association with ACE I/D genotypes or alleles. The ID + DD (D allele) and DD genotypes of ACE I/D polymorphism, with II as a reference, were found to pose a significantly reduced risk for depression (p value < 0.05). In conclusion, the findings of this study suggest that the D allele of ACE I/D gene polymorphism poses a potentially reduced risk of depression among North Indian adults. In the case of cognitive impairment, the findings suggest that gender, educational status, and employment status may be important factors to consider when assessing the risk of cognitive impairment. However, more research is needed to better understand the complex interplay between sociodemographic and genetic factors and cognitive impairment and depression.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140593935","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-28DOI: 10.1186/s43042-024-00516-3
Magda Sayed Mahmoud, Mohamed K. Khalifa, Amira M. Nageeb, Lobna R. Ezz El-Arab, Manal El-Mahdy, Amal Ramadan, Maha Hashim, Noha M. Bakr, Menha Swellam
Impact of Isocitrate dehydrogenase1 (IDH1) and O6-methylguanine-DNA methyltransferase (MGMT) in glioblastoma (GBM) have been of great interest due to their implications in prediction of prognosis of several types of cancer. It was aimed to investigate the clinical role of IDH1 mutation and MGMT methylation pattern among GBM patients versus non-neuro-oncological diseases (NND) patients and their impact on survival criteria. Formalin-fixed paraffin-embedded (FFPE) tissue sections of 58 GBM and 20 non-neuro-oncological diseases patients were recruited and IDH1 mutation and MGMT methylation was detected using Cast-PCR technology and Methyl II quantitative PCR approach, respectively. Results were assessed with other clinicopathological criteria and survival patterns. IDH1 mutation was detected among 15 GBM cases (15/58) and it was not reported among NND (P = 0.011). Receiver operating characteristic (ROC) curve was plotted to discriminate between MGMT methylation among studied groups. Patients with MGMT methylation ≥ 66% were reported as high methylation, which was recorded significantly in 51.7% and 100% of GBM cases and NND, respectively. Both showed significant difference with performance status, while MGMT methylation was significantly related with tumor size and tumor location. IDH1 mutation and MGMT methylation reported significant increase with GB patients revealed complete response to treatment. Survival pattern was better for IDH1 mutation and MGMT high methylation as compared to IDH1 wild type or MGMT low–moderate methylation, respectively, and favorable survival was detected when both were combined than using either of them alone. Detection of IDH1 mutation and MGMT methylation among GB patients could aid in prediction of their response to treatment and their survival patterns, and their combination is better than using any of them alone.
{"title":"Clinical impact of IDH1 mutations and MGMT methylation in adult glioblastoma","authors":"Magda Sayed Mahmoud, Mohamed K. Khalifa, Amira M. Nageeb, Lobna R. Ezz El-Arab, Manal El-Mahdy, Amal Ramadan, Maha Hashim, Noha M. Bakr, Menha Swellam","doi":"10.1186/s43042-024-00516-3","DOIUrl":"https://doi.org/10.1186/s43042-024-00516-3","url":null,"abstract":"Impact of Isocitrate dehydrogenase1 (IDH1) and O6-methylguanine-DNA methyltransferase (MGMT) in glioblastoma (GBM) have been of great interest due to their implications in prediction of prognosis of several types of cancer. It was aimed to investigate the clinical role of IDH1 mutation and MGMT methylation pattern among GBM patients versus non-neuro-oncological diseases (NND) patients and their impact on survival criteria. Formalin-fixed paraffin-embedded (FFPE) tissue sections of 58 GBM and 20 non-neuro-oncological diseases patients were recruited and IDH1 mutation and MGMT methylation was detected using Cast-PCR technology and Methyl II quantitative PCR approach, respectively. Results were assessed with other clinicopathological criteria and survival patterns. IDH1 mutation was detected among 15 GBM cases (15/58) and it was not reported among NND (P = 0.011). Receiver operating characteristic (ROC) curve was plotted to discriminate between MGMT methylation among studied groups. Patients with MGMT methylation ≥ 66% were reported as high methylation, which was recorded significantly in 51.7% and 100% of GBM cases and NND, respectively. Both showed significant difference with performance status, while MGMT methylation was significantly related with tumor size and tumor location. IDH1 mutation and MGMT methylation reported significant increase with GB patients revealed complete response to treatment. Survival pattern was better for IDH1 mutation and MGMT high methylation as compared to IDH1 wild type or MGMT low–moderate methylation, respectively, and favorable survival was detected when both were combined than using either of them alone. Detection of IDH1 mutation and MGMT methylation among GB patients could aid in prediction of their response to treatment and their survival patterns, and their combination is better than using any of them alone.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140322109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-27DOI: 10.1186/s43042-024-00474-w
Homa Akhavan Aghghaleh, Najmeh Ranji, Hadi Habibollahi
The age-standardized incidence rate for gastric cancer is estimated to be 11.1% worldwide and 39.1% for Ardabil province in northwest Iran. Single nucleotide polymorphisms (SNPs) occur in coding and non-coding regions, contributing to cancer susceptibility. To identify SNPs predisposing individuals to gastric cancer in this region, we compared 263 variants between the Ardabil population and other populations. Whole exome sequencing was used to determine the distribution of variants in the genomic DNA of 150 volunteers (aged < 35 years) from the general population of Ardabil. We compared allele frequencies with databases such as Iranome, Alfa, GnomAD, and 1000G, and statistically analyzed their correlation with age-standardized incidence rates (ASRs) for gastric cancer in related populations using the Pearson correlation test. Some findings were validated using Sanger-based PCR-Sequencing. We determined the frequency of seventeen variants among 150 individuals with gastric cancer and 150 healthy volunteers (matched for age and sex) as the control group. Nineteen variants, including rs10061133, rs1050631, rs12220909, rs12983273, rs1695, rs2274223, rs2292832, rs2294008, rs2505901, rs2976391, rs33927012, rs3744037, rs3745469, rs4789936, rs4986790, rs4986791, rs6194, rs63750447, and rs6505162, were found to be significantly different between the general population of Ardabil and other populations. Among them, the variants rs1050631, rs12983273, rs1695, rs2274223, rs2292832, rs2505901, rs33927012, rs374569, and rs6505162 showed significant differences between the cases and controls. In this study, 17 variants appeared to be involved in the etiology of the high frequency of gastric cancer in the Ardabil population. Some of the observed differences were consistent with previous case–control and meta-analysis reports from various parts of the world. These findings motivate further cohort investigations in this population. Ultimately, identifying prognostic factors can help diagnose individuals predisposed to gastric cancer in this population.
{"title":"Genomic susceptibility to gastric cancer in Northwest Iran: population-based and case–control studies","authors":"Homa Akhavan Aghghaleh, Najmeh Ranji, Hadi Habibollahi","doi":"10.1186/s43042-024-00474-w","DOIUrl":"https://doi.org/10.1186/s43042-024-00474-w","url":null,"abstract":"The age-standardized incidence rate for gastric cancer is estimated to be 11.1% worldwide and 39.1% for Ardabil province in northwest Iran. Single nucleotide polymorphisms (SNPs) occur in coding and non-coding regions, contributing to cancer susceptibility. To identify SNPs predisposing individuals to gastric cancer in this region, we compared 263 variants between the Ardabil population and other populations. Whole exome sequencing was used to determine the distribution of variants in the genomic DNA of 150 volunteers (aged < 35 years) from the general population of Ardabil. We compared allele frequencies with databases such as Iranome, Alfa, GnomAD, and 1000G, and statistically analyzed their correlation with age-standardized incidence rates (ASRs) for gastric cancer in related populations using the Pearson correlation test. Some findings were validated using Sanger-based PCR-Sequencing. We determined the frequency of seventeen variants among 150 individuals with gastric cancer and 150 healthy volunteers (matched for age and sex) as the control group. Nineteen variants, including rs10061133, rs1050631, rs12220909, rs12983273, rs1695, rs2274223, rs2292832, rs2294008, rs2505901, rs2976391, rs33927012, rs3744037, rs3745469, rs4789936, rs4986790, rs4986791, rs6194, rs63750447, and rs6505162, were found to be significantly different between the general population of Ardabil and other populations. Among them, the variants rs1050631, rs12983273, rs1695, rs2274223, rs2292832, rs2505901, rs33927012, rs374569, and rs6505162 showed significant differences between the cases and controls. In this study, 17 variants appeared to be involved in the etiology of the high frequency of gastric cancer in the Ardabil population. Some of the observed differences were consistent with previous case–control and meta-analysis reports from various parts of the world. These findings motivate further cohort investigations in this population. Ultimately, identifying prognostic factors can help diagnose individuals predisposed to gastric cancer in this population.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140312548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-27DOI: 10.1186/s43042-024-00517-2
Yalda Zhoulideh, Jamil Joolideh
Mowat-Wilson syndrome can be mentioned as one of the most severe and, at the same time, rare genetic abnormalities. The inheritance pattern of this disorder is an autosomal dominant pattern. In this disease, the ZEB2 gene becomes abnormal. The severity of the disease and associated signs and symptoms can vary widely but may include distinct facial features, developmental delay, intellectual disability, and Hirschsprung. MWS treatment may vary based on the specific symptoms that appear in each individual. This review will examine the gene involved in this disease, phenotype, clinical manifestations, ways of diagnosis, and treatment of this disease.
{"title":"Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management","authors":"Yalda Zhoulideh, Jamil Joolideh","doi":"10.1186/s43042-024-00517-2","DOIUrl":"https://doi.org/10.1186/s43042-024-00517-2","url":null,"abstract":"Mowat-Wilson syndrome can be mentioned as one of the most severe and, at the same time, rare genetic abnormalities. The inheritance pattern of this disorder is an autosomal dominant pattern. In this disease, the ZEB2 gene becomes abnormal. The severity of the disease and associated signs and symptoms can vary widely but may include distinct facial features, developmental delay, intellectual disability, and Hirschsprung. MWS treatment may vary based on the specific symptoms that appear in each individual. This review will examine the gene involved in this disease, phenotype, clinical manifestations, ways of diagnosis, and treatment of this disease.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140312022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-26DOI: 10.1186/s43042-024-00512-7
Devalina Junahar, Rinesia Dwiputri, Wirawan Adikusuma, Darmawi Darmawi, Afdal Afdal, Lalu Muhammad Irham, Suyanto Suyanto
Studies have attributed 50% of infertility cases to male infertility, 15% of which is caused by idiopathic genetic factors. Currently, no specific biomarkers have been revealed for male infertility. Furthermore, research on genetic factors causing male infertility is still limited. As with other multifactorial genetic disorders, numerous risk loci for male infertility have been identified by genome-wide association studies (GWAS), although their clinical significance remains uncertain. Therefore, we utilized an integrative bioinformatics-based approach to identify biomarkers for male infertility. Bioinformatics analysis was performed using Open Targets Platform, DisGeNet, and GWAS Catalog. After that, the STRING database and the Cytoscape program were used to analyze protein–protein interaction. CytoHubba was used to determine the most significant gene candidates. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses were used to assess biological functions that correspond to the male infertility disease pathway. We identified 305 genes associated with male infertility and highlighted 10 biological risk genes as potential biomarkers for male infertility such as TEX11, SPO11, SYCP3, HORMAD1, STAG3, MSH4, SYCP2, SYCE1, RAD21L1, and AMH. Of all the genes, we took the top three genes, namely, TEX11, SPO11, and SYCP3 as the genes that have the most potential as biomarkers. TEX11, SPO11, and SYCP3 are involved in meiosis and spermatogenesis. We propose that further research in regarding these genes in detecting male infertility.
{"title":"Potential biomarker signatures in male infertility: integrative genomic analysis","authors":"Devalina Junahar, Rinesia Dwiputri, Wirawan Adikusuma, Darmawi Darmawi, Afdal Afdal, Lalu Muhammad Irham, Suyanto Suyanto","doi":"10.1186/s43042-024-00512-7","DOIUrl":"https://doi.org/10.1186/s43042-024-00512-7","url":null,"abstract":"Studies have attributed 50% of infertility cases to male infertility, 15% of which is caused by idiopathic genetic factors. Currently, no specific biomarkers have been revealed for male infertility. Furthermore, research on genetic factors causing male infertility is still limited. As with other multifactorial genetic disorders, numerous risk loci for male infertility have been identified by genome-wide association studies (GWAS), although their clinical significance remains uncertain. Therefore, we utilized an integrative bioinformatics-based approach to identify biomarkers for male infertility. Bioinformatics analysis was performed using Open Targets Platform, DisGeNet, and GWAS Catalog. After that, the STRING database and the Cytoscape program were used to analyze protein–protein interaction. CytoHubba was used to determine the most significant gene candidates. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses were used to assess biological functions that correspond to the male infertility disease pathway. We identified 305 genes associated with male infertility and highlighted 10 biological risk genes as potential biomarkers for male infertility such as TEX11, SPO11, SYCP3, HORMAD1, STAG3, MSH4, SYCP2, SYCE1, RAD21L1, and AMH. Of all the genes, we took the top three genes, namely, TEX11, SPO11, and SYCP3 as the genes that have the most potential as biomarkers. TEX11, SPO11, and SYCP3 are involved in meiosis and spermatogenesis. We propose that further research in regarding these genes in detecting male infertility.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140298515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hydrocephalus is one of the most common pathophysiological disabilities with a high mortality rate, which occurs both congenitally and acquired. It is estimated that genetic components are the etiology for up to 40% of hydrocephalus cases; however, causal mutations identified until now could only explain approximately 20% of congenital hydrocephalus (CH) patients, and most potential hydrocephalus-associated genes have yet to be determined. This study sought to find causal variations in a consanguineous family with four affected children diagnosed with hydrocephalus. In this study, we evaluated twenty-five members of an extended family consisting of a nuclear family with four affected children resulting from a consanguineous couple and eighteen of their relatives, including one hydrocephalus case. The mother of this family was experiencing her 15th week of pregnancy, and cytogenetic evaluation was performed using amniocentesis to identify fetal chromosomal abnormalities. We conducted whole-exome sequencing (WES) on the genomic DNA of the proband to detect the CH-causing variants, followed by confirmation and segregation analysis of the detected variant in the proband, fetus, and family members through Sanger sequencing. Following the bioinformatic analysis and data filtering, we found a homozygous variant [NM_001243766.2:c.74G>A:p.W25X] within the protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) gene confirmed by Sanger sequencing in the proband and segregated with the hydrocephalus in the family. The variant was described as pathogenic and regarded as a nonsense-mediated mRNA decay (NMD) due to the premature stop codon, which results in a truncated protein. The results of the current study broadened the mutational gene spectrum of CH and our knowledge of the hydrocephalus etiology by introducing a novel homozygous variant within the POMGNT1 gene, which had never been previously reported solitary in these patients.
{"title":"The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus","authors":"Masoud Sabzeghabaiean, Mohsen Maleknia, Javad Mohammadi-Asl, Hashem Kazemi, Fereshteh Golab, Zohreh Zargar, Maryam Naseroleslami","doi":"10.1186/s43042-024-00513-6","DOIUrl":"https://doi.org/10.1186/s43042-024-00513-6","url":null,"abstract":"Hydrocephalus is one of the most common pathophysiological disabilities with a high mortality rate, which occurs both congenitally and acquired. It is estimated that genetic components are the etiology for up to 40% of hydrocephalus cases; however, causal mutations identified until now could only explain approximately 20% of congenital hydrocephalus (CH) patients, and most potential hydrocephalus-associated genes have yet to be determined. This study sought to find causal variations in a consanguineous family with four affected children diagnosed with hydrocephalus. In this study, we evaluated twenty-five members of an extended family consisting of a nuclear family with four affected children resulting from a consanguineous couple and eighteen of their relatives, including one hydrocephalus case. The mother of this family was experiencing her 15th week of pregnancy, and cytogenetic evaluation was performed using amniocentesis to identify fetal chromosomal abnormalities. We conducted whole-exome sequencing (WES) on the genomic DNA of the proband to detect the CH-causing variants, followed by confirmation and segregation analysis of the detected variant in the proband, fetus, and family members through Sanger sequencing. Following the bioinformatic analysis and data filtering, we found a homozygous variant [NM_001243766.2:c.74G>A:p.W25X] within the protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) gene confirmed by Sanger sequencing in the proband and segregated with the hydrocephalus in the family. The variant was described as pathogenic and regarded as a nonsense-mediated mRNA decay (NMD) due to the premature stop codon, which results in a truncated protein. The results of the current study broadened the mutational gene spectrum of CH and our knowledge of the hydrocephalus etiology by introducing a novel homozygous variant within the POMGNT1 gene, which had never been previously reported solitary in these patients.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140298447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is usually clinically associated with Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation (W-A-G-R). Although the genotypic defects in WAGR syndrome have been well established. The congenital aniridia is caused, in nearly 90% of cases by mutations in the gene PAX6. In the face of congenital aniridia, it is imperative to specify whether it falls within the scope of a WAGR syndrome or if it is an isolated congenital aniridia or inherited by performing karyotype, FISH (Fluorescence In Situ Hybridization) or a CGH array for genetic counseling. We report here a case of genetic testing for newborn with aniridia, to detect 11p13 rearrangements, using karyotyping and CGH array to complete picture of the chromosomal deletions and breakpoints in aniridia. Results show either a loss of 3811.196 kb on chromosome 11 delimited by the bands p14.1 and p13 with formula or a loss of a 1867.287 kb on chromosome 18 fragment delimited by q21.33 and q22.1 bands, that has not been detected by karyotype analysis. Cytogenetics screening is a good strategy for the genetic diagnosis of aniridia and associated syndromes, allowing for a better identification of breakpoints. Our results underline the clinical importance of performing exhaustive and accurate analysis of chromosomal rearrangements for patients with aniridia, especially newborns to improve survival and quality of life for affected individuals.
{"title":"Conventional and molecular cytogenetic characterization of a Moroccan patient with WAGR syndrome","authors":"Faiza Chbel, Hasna Hamdaoui, Houssein Mossafa, Karim Ouldim, Houda Benrahma","doi":"10.1186/s43042-024-00514-5","DOIUrl":"https://doi.org/10.1186/s43042-024-00514-5","url":null,"abstract":"WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is usually clinically associated with Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation (W-A-G-R). Although the genotypic defects in WAGR syndrome have been well established. The congenital aniridia is caused, in nearly 90% of cases by mutations in the gene PAX6. In the face of congenital aniridia, it is imperative to specify whether it falls within the scope of a WAGR syndrome or if it is an isolated congenital aniridia or inherited by performing karyotype, FISH (Fluorescence In Situ Hybridization) or a CGH array for genetic counseling. We report here a case of genetic testing for newborn with aniridia, to detect 11p13 rearrangements, using karyotyping and CGH array to complete picture of the chromosomal deletions and breakpoints in aniridia. Results show either a loss of 3811.196 kb on chromosome 11 delimited by the bands p14.1 and p13 with formula or a loss of a 1867.287 kb on chromosome 18 fragment delimited by q21.33 and q22.1 bands, that has not been detected by karyotype analysis. Cytogenetics screening is a good strategy for the genetic diagnosis of aniridia and associated syndromes, allowing for a better identification of breakpoints. Our results underline the clinical importance of performing exhaustive and accurate analysis of chromosomal rearrangements for patients with aniridia, especially newborns to improve survival and quality of life for affected individuals.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140201010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-21DOI: 10.1186/s43042-024-00503-8
Rawan A. Nijeeb, Adnan A. Aljber, Ali H. Ad’hiah
Interleukin-38 (IL-38), an inflammatory cytokine discovered in recent years, has been implicated in the pathogenesis of systemic lupus erythematosus (SLE). IL-38 is encoded by the IL1F10 (interleukin 1 family member 10) gene. Genetic variants of this gene have been associated with susceptibility to a number of autoimmune and inflammatory diseases, while their association with SLE risk has not been explored. In this case–control study, two novel variants of the 5 prime untranslated region (5′UTR) of the IL1F10 gene, rs3811050 C/T and rs3811051 T/G, were investigated in 120 women with SLE and 120 age-matched control women. The TaqMan allelic discrimination assay was used for genotyping of rs3811050 and rs3811051. The frequency of the rs3811050 CT genotype was significantly lower in SLE patients compared to controls (30.8 vs. 50.0%; odds ratio = 0.49; 95% confidence interval = 0.28–0.86; corrected probability = 0.045). The rs3811051 genotype frequencies did not show significant differences between patients and controls. Rs3811050 and rs3811051 showed weak linkage disequilibrium (LD) as indicated by the estimated LD coefficient and correlation coefficient values (0.32 and 0.05, respectively), and two-locus haplotype analysis revealed no significant differences between patients and controls. The frequencies of the rs3811050 T allele (38.8 vs. 20.6%; probability = 0.029) and the rs3811051 G allele (56.3 vs. 38.2%; probability = 0.038) were significantly higher in patients with mild/moderate disease activity than in patients with high disease activity, but significance was not maintained after applying Bonferroni correction (corrected probability = 0.058 and 0.076, respectively). Serum IL-38 concentrations (median and interquartile range) were significantly decreased in patients compared with controls (69.5 [64.1–74.8] vs. 73.5 [66.1–82.9] pg/mL; probability = 0.03), but were not influenced by SNP genotypes. The heterozygous genotype of rs3811050, a 5'UTR variant, of the IL-38 encoding gene, IL1F10, is associated with a reduced risk of SLE among women. Furthermore, the rs3811050 T and rs3811051 G alleles may influence disease activity. In addition, serum IL-38 concentrations were down-regulated in SLE patients but were not affected by the rs3811050 and rs3811051 genotypes.
白细胞介素-38（IL-38）是近年来发现的一种炎性细胞因子，与系统性红斑狼疮（SLE）的发病机制有关。IL-38 由 IL1F10（白细胞介素 1 家族成员 10）基因编码。该基因的遗传变异与多种自身免疫性疾病和炎症性疾病的易感性有关，但它们与系统性红斑狼疮风险的关系尚未得到探讨。在这项病例对照研究中，研究人员在 120 名系统性红斑狼疮女性患者和 120 名年龄匹配的对照组女性患者中调查了 IL1F10 基因 5 prime 非翻译区（5′UTR）的两个新型变异，即 rs3811050 C/T 和 rs3811051 T/G。对 rs3811050 和 rs3811051 的基因分型采用了 TaqMan 等位基因鉴别测定法。与对照组相比，系统性红斑狼疮患者的rs3811050 CT基因型频率明显较低（30.8%对50.0%；几率比=0.49；95%置信区间=0.28-0.86；校正概率=0.045）。患者与对照组之间的 rs3811051 基因型频率没有显著差异。Rs3811050和rs3811051的估计LD系数和相关系数值（分别为0.32和0.05）显示出弱的连锁不平衡（LD），双病灶单倍型分析显示患者和对照组之间没有显著差异。轻度/中度疾病活动患者的rs3811050 T等位基因频率（38.8% vs. 20.6%；概率=0.029）和rs3811051 G等位基因频率（56.3% vs. 38.2%；概率=0.038）显著高于高度疾病活动患者，但在应用Bonferroni校正后，显著性并未保持（校正概率分别为0.058和0.076）。与对照组相比，患者的血清IL-38浓度（中位数和四分位间范围）显著降低（69.5 [64.1-74.8] vs. 73.5 [66.1-82.9] pg/mL；概率 = 0.03），但不受SNP基因型的影响。IL-38编码基因IL1F10的5'UTR变异rs3811050的杂合基因型与女性患系统性红斑狼疮的风险降低有关。此外，rs3811050 T 和 rs3811051 G 等位基因可能会影响疾病的活动性。此外，系统性红斑狼疮患者血清中的IL-38浓度下调，但不受rs3811050和rs3811051基因型的影响。
{"title":"Low heterozygosity for rs3811050, a 5 prime untranslated region variant of the gene encoding interleukin-38 (IL1F10), is associated with a reduced risk of systemic lupus erythematosus","authors":"Rawan A. Nijeeb, Adnan A. Aljber, Ali H. Ad’hiah","doi":"10.1186/s43042-024-00503-8","DOIUrl":"https://doi.org/10.1186/s43042-024-00503-8","url":null,"abstract":"Interleukin-38 (IL-38), an inflammatory cytokine discovered in recent years, has been implicated in the pathogenesis of systemic lupus erythematosus (SLE). IL-38 is encoded by the IL1F10 (interleukin 1 family member 10) gene. Genetic variants of this gene have been associated with susceptibility to a number of autoimmune and inflammatory diseases, while their association with SLE risk has not been explored. In this case–control study, two novel variants of the 5 prime untranslated region (5′UTR) of the IL1F10 gene, rs3811050 C/T and rs3811051 T/G, were investigated in 120 women with SLE and 120 age-matched control women. The TaqMan allelic discrimination assay was used for genotyping of rs3811050 and rs3811051. The frequency of the rs3811050 CT genotype was significantly lower in SLE patients compared to controls (30.8 vs. 50.0%; odds ratio = 0.49; 95% confidence interval = 0.28–0.86; corrected probability = 0.045). The rs3811051 genotype frequencies did not show significant differences between patients and controls. Rs3811050 and rs3811051 showed weak linkage disequilibrium (LD) as indicated by the estimated LD coefficient and correlation coefficient values (0.32 and 0.05, respectively), and two-locus haplotype analysis revealed no significant differences between patients and controls. The frequencies of the rs3811050 T allele (38.8 vs. 20.6%; probability = 0.029) and the rs3811051 G allele (56.3 vs. 38.2%; probability = 0.038) were significantly higher in patients with mild/moderate disease activity than in patients with high disease activity, but significance was not maintained after applying Bonferroni correction (corrected probability = 0.058 and 0.076, respectively). Serum IL-38 concentrations (median and interquartile range) were significantly decreased in patients compared with controls (69.5 [64.1–74.8] vs. 73.5 [66.1–82.9] pg/mL; probability = 0.03), but were not influenced by SNP genotypes. The heterozygous genotype of rs3811050, a 5'UTR variant, of the IL-38 encoding gene, IL1F10, is associated with a reduced risk of SLE among women. Furthermore, the rs3811050 T and rs3811051 G alleles may influence disease activity. In addition, serum IL-38 concentrations were down-regulated in SLE patients but were not affected by the rs3811050 and rs3811051 genotypes.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140201089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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