Journal of Reproduction & Infertility

Journal of Reproduction & Infertility

Association Between Single Nucleotide Polymorphisms (rs1484215 and rs6495096) in CYP11A1 Gene in Iranian Women with Polycystic Ovary Syndrome

Authors
Parry Fathy 1
Ebrahim Cheraghi 2
Seyed Mohsen Miresmaeili 1
1 Department of Biology, Science and Arts University, Yazd, Iran
2 Department of Biology, Faculty of Science, University of Qom, Qom, Iran
10.18502/jri.v24i1.11905
Abstract
Background: Genetic factors are significantly have important role in the etiology of the polycystic ovary syndrome (PCOS). This study examined the possible relation of rs1484215 and rs6495096 polymorphisms of CYP11A1 gene in Iranian women with PCOS. Methods: The population of the case-control research included 100 women presenting with PCOS and 100 women as a control group who were referred to Infertility Center in Qom, Iran. The genotypes of rs1484215 and rs6495096 polymorphisms in CYP11A1 gene were detected with the tetra-ARMS PCR method. The independent segregation of alleles was tested for the Hardy–Weinberg equilibrium (HWE). Differences in quantitative traits were assessed between each group with a single PCOS feature and control group using Mann–Whitney U test for categorical variables and student’s t-test for continuous variables. Statistical analysis of allele and genotype frequencies between women with PCOS and control was performed using the chi-square test. Significance level was defined as p<0.05. Results: There was a significant association of C with G alleles in rs6495096 polymorphism and susceptibility to PCOS (p=0.001), but no significant relation was found between C and T alleles in rs1484215 polymorphism and susceptibility to PCOS. Also, GG genotype of rs6495096 was significantly associated with the waist-to-hip ratio (WHR) and infertility duration compared to CG and CC (p0.01). However, rs1484215 showed no association with these variables. Conclusion: The results from the research indicated that rs6495096 polymorphism of CYP11A1 gene is related to the PCOS risk in Iranians women.
Keywords
Cholesterol side
chain cleavage enzyme
Infertility
polycystic ovarian syndrome
Polymorphism
Single nucleotide
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Journal of Reproduction & Infertility
Volume 24, Issue 1
Winter 2023
Pages 18-25