The Association study of eNOS 4a/b and G1190T variant with Iranian male infertility: A case-control study and computational analysis

IF 0.8 Q4 GENETICS & HEREDITY

Meta Gene Pub Date : 2021-12-01 DOI:10.1016/j.mgene.2021.100971

Faramarz Fazeli , Milad Heidari Nia , Elaheh Hajipour , Anoosh Naghavi

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Abstract

This study aims to evaluate the association of Endothelial Nitric Oxide Synthase (eNOS) 4a/b and G1190T polymorphisms with male infertility using a case-control study followed by an in-silico analysis in an Iranian population. This case-control study was conducted on 150 infertile and 155 fertile men as control subjects. The eNOS 4a/b polymorphism was detected using PCR. For G1190T, the PCR fragments were digested with the BanII restriction enzyme. Statistical analysis was done using SPSS Statistics V20. There was a significant difference between infertile and fertile groups in the frequency of the a allele (p = 0.046). In addition, the mentioned allele caused an increase in the risk of idiopathic infertility in the dominant model (p = 0.040). A significant increase occurred in the frequency of the T allele of the G1190T variant in the case group compared to the fertile subjects. In addition, a significant increase occurred in the risk of infertility in the dominant model (p = 0.020). According to bioinformatics analysis results, G1190T substitution altered the splicing pattern of eNOS mRNA as well as the secondary structure of the eNOS protein in some local regions. The present study revealed the significant association of eNOS G1190T and 4a/b gene variants with infertility phenotypes in Iranian men.

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eNOS 4a/b和G1190T变异与伊朗男性不育的相关性研究:病例对照研究和计算分析

本研究旨在通过病例对照研究和计算机分析，评估内皮型一氧化氮合酶(eNOS) 4a/b和G1190T多态性与伊朗人群男性不育症的关系。本研究以150名不育男性和155名有生育能力男性为对照。采用PCR检测eNOS 4a/b多态性。对于G1190T, PCR片段用BanII限制性内切酶酶切。采用SPSS Statistics V20进行统计分析。不育组和可育组a等位基因频率差异有统计学意义(p = 0.046)。此外，上述等位基因导致显性模型中特发性不孕症的风险增加(p = 0.040)。与有生育能力的受试者相比，病例组G1190T变异T等位基因的频率显著增加。此外，优势模型的不孕风险显著增加(p = 0.020)。生物信息学分析结果显示，G1190T的取代改变了eNOS mRNA的剪接模式，并改变了eNOS蛋白部分局部区域的二级结构。本研究揭示了eNOS G1190T和4a/b基因变异与伊朗男性不育表型的显著关联。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Meta Gene Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.10

自引率

0.00%

发文量

期刊介绍： Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.