Fathy Parry, Cheraghi Ebrahim, Miresmaeili Seyed Mohsen
Department of Biology, Science and Arts University, Yazd, Iran.
Department of Biology, Faculty of Science, University of Qom, Qom, Iran.
J Reprod Infertil. 2023 Jan-Mar;24(1):18-25. doi: 10.18502/jri.v24i1.11905.
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.
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.
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.
The results from the research indicated that rs6495096 polymorphism of CYP11A1 gene is related to the PCOS risk in Iranians women.
遗传因素在多囊卵巢综合征（PCOS）的病因中起着重要作用。本研究探讨了伊朗PCOS女性中CYP11A1基因rs1484215和rs6495096多态性的可能关系。
病例对照研究的人群包括100名患有PCOS的女性和100名作为对照组的女性，她们被转诊至伊朗库姆的不孕中心。采用四引物扩增受阻突变系统PCR法检测CYP11A1基因rs1484215和rs6495096多态性的基因型。对等位基因的独立分离进行哈迪-温伯格平衡（HWE）检验。使用曼-惠特尼U检验对分类变量和学生t检验对连续变量评估每组具有单一PCOS特征的人群与对照组之间的数量性状差异。使用卡方检验对PCOS女性和对照组之间的等位基因和基因型频率进行统计分析。显著性水平定义为p<0.05。
rs6495096多态性中C与G等位基因与PCOS易感性存在显著关联（p=0.001），但rs1484215多态性中C与T等位基因与PCOS易感性之间未发现显著关系。此外，与CG和CC相比，rs6495096的GG基因型与腰臀比（WHR）和不孕持续时间显著相关（p<0.01）。然而，rs1484215与这些变量无关联。
研究结果表明，CYP11A1基因的rs6495096多态性与伊朗女性的PCOS风险相关。
