HSPA1L and HSPA1B gene polymorphisms and haplotypes are associated with idiopathic male infertility in Iranian population.

OBJECTIVE: Male infertility is a multifactorial disease resulting from the interaction between the genetic and environmental factors. Spermatogenic failure accounts for more than half of male infertility cases. Heat shock proteins (HSPs) are the molecular chaperones that are involved in different developmental stages of spermatogenesis. The current study was planned to investigate the role of HSPA1L rs2227956 and HSPA1B rs1061581 gene polymorphisms in idiopathic male infertility. STUDY DESIGN: This case-control study was conducted on 516 subjects consisted of 308 patients with idiopathic male infertility and 208 age matched-(±5) control subjects. HSPA1L rs2227956 and HSPA1B rs1061581 polymorphisms were genotyped by PCR-RFLP method. RESULTS: A significant association with male infertility was found for HSPA1L rs2227956 in genotypes (TT vs CT: OR = 2.049, 95% CI = 1.337-3.139, P = 0.001; TT vs CC: OR = 3.028, 95% CI = 1.100-8.332, P = 0.032). In the dominant genetic model, rs2227956C allele increased the risk of male infertility (OR = 2.049, 95% CI = 1.337-3.139, P = 0.001). Also, the results showed a significant association between the HSPA1B rs1061581GG genotype and male infertility (OR = 2.638, 95% CI: 1.001-4.486, P = 0.001). The rs1061581 G allele was a risk factor for male infertility (OR = 1.657, 95% CI = 1.278-2.148, P < 0.001). Haplotype analysis showed CG and TA (rs2227956/ rs1061581) haplotype affect the risk of male infertility (P < 0.001). CONCLUSION: HSPA1L rs2227956 and HSPA1B rs1061581 gene polymorphisms are associated with susceptibility to idiopathic male infertility in Iranian population. Further studies in different ethnicity are necessary to confirm these results.

Influence of chemerin rs17173608 polymorphism on polycystic ovary syndrome susceptibility.

OBJECTIVE: The purpose of this study was to assess the association between the rs17173608 chemerin polymorphism and polycystic ovary syndrome risk (PCOS). MATERIALS AND METHODS: This case-control study was performed on 150 patients with PCOS and 150 normal women as the control group. Tetra-amplification refractory mutation system-polymerase chain reaction was used to detect the polymorphism. RESULTS: Our finding showed a positive association between the chemerin gene rs17173608 polymorphism and risk of PCOS. In the dominant effect of the G allele (comparison between TG+GG and TT), TG+GG genotypes were associated with the risk of PCOS (odds ratio = 2; 95% confidence interval = 1.3-3.2, p = 0.003). The G allele is thus dominant and increases the risk of PCOS as compared to the T allele (odds ratio = 1.7, 95% confidence interval = 1.1-2.5, p = 0.009). Nonetheless, there was no significant association between chemerin rs17173608 gene polymorphism and PCOS after adjusting genotypes for body mass index and age. CONCLUSION: These results suggested that there was a significant association between chemerin rs17173608 polymorphism and the PCOS; but this relationship was affected by obesity status.

Association between vaspin rs2236242 gene polymorphism and polycystic ovary syndrome risk.

Vaspin, an adipocytokine that has been isolated from the visceral adipose tissue, is a member of the serine protease inhibitor family. In humans, serum vaspin levels are correlated with body mass index (BMI) and obese women with polycystic ovary syndrome (PCOS). The present study is the first investigation to examine the association between vaspin rs2236242 gene polymorphism and risk of PCOS in Iranian patients. This case-control study was performed on 150 patients with PCOS and 150 healthy women. The vaspin genotypes were determined using tetra-amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR). Our finding showed that there are significant differences in genotype frequencies between case and control group regarding vaspin rs2236242 polymorphism (OR=0.59, CI=0.37-0.95, p=0.03). The A allele decreased the risk of PCOS (OR=0.67, CI=0.46-0.96, p=0.03) as compared to the T allele. There was no significant association between vaspin rs2236242 gene polymorphism and PCOS after adjusting genotypes for BMI. In conclusion, our data suggest a significant association between vaspin rs2236242 polymorphism and the PCOS but this relationship is affected by obesity status.