Association between two common transitions of H2BFWT gene and male infertility: a case-control, meta, and structural analysis.

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.

Circulating Levels of LAMP2 in Coronary Artery Disease: Association with Serum Lipid Profile.

Whereas several in vitro and in vivo studies have described the role of lysosomal associated membrane protein 2 (LAMP2) in lipid homeostasis, there is no study addressing LAMP2 serum concentration and its association with lipid profiles in the context of coronary artery disease (CAD). We aimed to determine the LAMP2 serum concentration and its association with serum lipid profiles as well as the gene expression of LAMP2 in peripheral blood mononuclear cells (PBMCs) of CAD patients and control group. Circulating levels of LAMP2 were quantified by enzyme-linked immunosorbent assay (ELISA) in CAD patients (n=85) and control group (n=65) and correlation to lipid parameters was assessed. Gene expression analysis was performed by quantitative real-time PCR. Mean LAMP2 serum concentration adjusted for drug consumption, age and gender was not significantly different between the CAD and control groups (p>0.05). However, LAMP2 serum concentration showed independent significant association with lipid profiles including triglyceride (TG), total cholesterol (TC), low density lipoprotein cholesterol (LDL-C) and high density lipoprotein cholesterol (HDL-C) (all p<0.05). Furthermore, increased expression of LAMP2 has been observed in PBMCs of CAD patients compared to the control group (p<0.05). Our findings supported the previous observations showing the contribution of LAMP2 in lipid homeostasis and pathogenesis of CAD.