H2BFWT is one of the testis-specific histones that plays a fundamental role in spermatogenesis, and single nucleotide polymorphisms (SNPs) in this gene may result in male infertility. This study aimed to investigate the association between -9C>T and 368A>G transitions of H2BFWT gene and male infertility through a case-control, meta-analysis, and a bioinformatics approach. In this case-control study, 490 subjects including 240 idiopathic infertile men and 250 healthy controls were included. The -9C>T and 368A>G SNPs genotyping were performed by a PCR-RFLP method. To find eligible studies for meta-analysis, we searched valid scientific databases. The odds ratios with 95% confidence intervals were estimated to find the strength of these associations. Furthermore, the influences of two common transitions on the molecular features of H2BFWT were assessed by in silico tools. Our case-control data revealed that -9C>T is not associated with male infertility. But, there was a significant association between 368A>G and male infertility. In the meta-analysis, five eligible studies were included. Our data revealed significant associations between -9C>T, 368A>G, and male infertility in overall and stratified analyses. Moreover, structural analysis showed that 368A>G could affect the protein structure (SNAP prediction: non-neutral, score: 42, expected accuracy: 71%; SIFT prediction: deleterious, score: -2.55), while -9C>T may affect the binding nucleotide in the promoter region. Based on these findings, two aforementioned polymorphisms were associated with increased risk of male infertility. However, studies with larger sample size and different ethnicities are needed to obtain more accurate conclusions.
Background. Polymorphisms in genes, which is involved in the renin-angiotensin system, play an important role in the pathogenesis of coronary heart disease (CHd). Polymorphism of c.803t>C in the human angiotensinogen gene results in methionine (M) to threonine (T) substitution at codon 268 (p.Met268Thr), which traditionally has been known as M235T. This polymorphism may contribute to cardiovascular diseases. Objectives. The aim of this study was to investigate the association between p.Met268Thr polymorphism in the angiotensinogen gene and coronary heart disease (CHd) through a case-control study, which is followed by a meta-analysis. Material and methods. In the case-control study, c.803T>C genotyping of 217 subjects (102 CHD cases vs 115 controls) was investigated by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. In the meta-analysis, 31 studies were included, reflecting 12,028 people with CHD and 16,362 healthy controls. Results. The data from the case-control study revealed that MT (OR, 1.875; 95%CI, 1.060-3.316; p = 0.031) and TT (OR, 3.389; 95%CI, 1.251-9.179; p = 0.016) genotypes are significantly associated with CHD. The meta-analysis revealed a significant association in the recessive model (OR, 1.156; 95%CI, 1.011-1.321; p = 0.034). Conclusions. Although the pooled OR of the meta-analysis showed that there is an increased risk of CHD conferred by p.Met268Thr of the AGT gene, this association was weak, which could be attributed to a bias in publications.
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