Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population.

BACKGROUND: Male infertility is a heterogeneous disease which can occur due to spermatogenesis defects. The idiopathic azoospermia and oligospermia are the common cause of male infertility with unknown underlying molecular mechanisms. The aim of this study was to investigate association of idiopathic azoospermia and oligospermia with single-nucleotide polymorphisms of CATSPER1, SPATA16 and TEX11 genes in Iranian-Azeri men. METHODS: In this case-control study, we recruited 100 infertile men (case group) and 100 fertile men (control group) from Azeri population in north western provinces, Iran, population. The genomic DNA was extracted using a proteinase K method from peripheral blood leukocytes. The genotypes analysis was conducted using tetra-primer amplification refractory mutation system-polymerase chain reaction method. The obtained data were analyzed by statistical software. RESULTS: We found a significant difference in the frequencies of heterozygote AB and mutant homozygote BB genotypes in the CATSPER1 (rs2845570) gene polymorphism between patients and healthy controls (p < 0.05). Moreover, we observed a significant difference in the frequencies of heterozygote BA genotype in the SPATA16 (rs1515442) gene polymorphism between patients and healthy controls (p < 0.05). However, no significant difference was found in genotypes distribution of case and control groups in the TEX11 (rs143246552) gene polymorphism. CONCLUSION: Our finding showed that the CATSPER1 (rs2845570) and SPATA16 (rs1515442) genes polymorphism may play an important role in idiopathic azoospermia and oligospermia in Iranian Azeri population. However, more extensive studies with larger sample sizes from different ethnic origins are essential for access more accurate results.

The modulating effects of vitamin D on the activity of ß-catenin in the endometrium of women with endometriosis: a randomized exploratory trial.

AIMS: The aim of this prospective study was to investigate the effects of vitamin D on the expression and activity of ß-catenin, as the key molecule of the Wnt/ß-catenin signaling pathway, in endometriosis women. MATERIALS AND METHODS: Thirty four infertile women with stage III or IV endometriosis were randomly divided to two groups. The control group received the routine treatment and the treatment group, beside the routine protocol, received 50000 IU vitamin D weekly for 12-14 weeks. Blood and endometrial tissue were collected from both groups before and after the intervention. Protein and Gene expression levels of ß-catenin were assessed by Western blotting and Real-Time PCR, respectively. RESULTS: Compared to before intervention, the expression of active form of ß-catenin reduced significantly within treatment group (p = .000), in addition, the difference between control and treatment groups (p = .012) was significant after intervention, too. Also, the ratio of active/total form of ß-catenin protein expression was significantly decreased within the treatment group at the end of intervention period (p = .000). CONCLUSIONS: It seems vitamin D can change the activity of ß-catenin protein in the endometrial cells of endometriosis patients. Further studies on the therapeutic potential of vitamin D in modifying the ß-catenin activity in endometriosis patients are warranted. CLINICAL TRIAL REGISTRATION NUMBER: IRCT2015081823678N1. TRIAL REGISTRATION DATE: 29 September 2015.