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Animal model studies have shown that MSY2 gene has a potential role in spermatogenesis. Some mutations on this gene have been proposed to be associated with human male infertility. In this study, polymorphisms of exon 1 of YBX2 gene have been investigated. A total of 276 men were evaluated. They included 96 men with normal spermatogenesis, 60 men with nonobstructive azoospermia, 60 men with oligospermia and 60 men with asthenospermia. We extracted DNA from blood and testis tissues of samples, and analysed polymorphisms of exon 1 by sequencing method. Moreover, YBX2 gene expression was studied by real-time PCR on blood and testis tissue of samples. Sequencing results showed that among the studied polymorphisms, frequency of TT genotype in rs222859 polymorphism was significantly higher in azoospermic patients compared to control group (P < 0.001). Azoospermic men exhibited significant underexpression of YBX2 gene in blood and testis samples in comparison with controls, oligosperm and asthenosperm samples (P < 0.001), but there was no significant difference in gene expression of YBX2 gene in blood and testis tissues of azoospermic men, with and without mutation (P > 0.05). According to our results, the alterations of this gene might be involved in azoospermia among Iranian population., (© 2016 Blackwell Verlag GmbH.)

Different studies have shown that -238 G>A polymorphism in promoter region of tumor necrosis factor alpha (TNF-α) gene is associated with increased risk of non-alcoholic fatty liver disease (NAFLD). The current study investigates the association between metabolic parameters and nutritional intakes with -238 G>A of TNF-α promoter gene polymorphism among the Iranian patients with NAFLD. In this study, 75 patients with NAFLD and 76 individuals as control were enrolled. Dietary intakes were assessed using a semi-quantitative food-frequency questionnaire. Body mass index and waist to hip ratio were calculated. Biochemical assays were measured after 12 h fasting. -238 G>A Polymorphism of TNF-α gene was determined by using sequencing method. We observed no significant difference in frequency of different genotypes of this polymorphism between NAFLD and control groups (P > 0.05). Among biochemical parameters, TAC showed significant decrease in NAFLD patients with GG genotype when compared to controls (P = 0.001). The comparison of macro and micronutrient intakes between groups according to genotypes showed no statistically significant difference (P > 0.05). Although the data were not statistically significant, further studies with larger sample size are needed to determine the effect of dietary compounds in NAFLD.

Genetic factors have an important role in the pathophysiology of endometriosis. In addition, abnormalities in lipid profile and intrinsic inflammatory status are associated with disease progression. The purpose of this study was to evaluate the effect of the I405V polymorphism of cholesteryl ester transfer protein (CETP) gene and lipid profile with the risk of endometriosis in women. Ninety-seven women with laparoscopy-diagnosed endometriosis were recruited for this study, and 107 patients with no evidence of endometriosis confirmed by laparoscopy served as controls. Samples were analyzed for polymorphism of the CETP gene using polymerase chain reaction-restriction fragment length polymorphism-based methods. After adjustment for body mass index, high-density lipoprotein-C and low-density lipoprotein-C, the risk of endometriosis in patients with normal genotype homozygous was more of the rare allele (p < 0.001, odds ratio = 0.21, 95% confidence interval = 0.09-0.45). Our results suggest that I405V polymorphism of CETP gene plays an important role as independent factor in the risk of endometriosis in women.