Naseri Rozita, Alimoradi Yosra, Sohrabi Maryam, Cheraghian Fard Mostafa, Barzingarosi Elahe, Abdolmaleki Amir, Jalili Cyrus
Internal Medicine Department, Imam Reza Hospital, Kermanshah University of Medical Sciences, Kermanshah, Iran.
Department of Anatomical Sciences, Medical School, Kermanshah University of Medical Sciences, Kermanshah, Iran.
Int J Fertil Steril. 2022 Aug 21;16(3):180-183. doi: 10.22074/ijfs.2021.141690.1050.
Polycystic ovary syndrome (PCOS) is known as the most common endocrine and metabolic disorder in the reproductive-age women. Due to the effects of PCOS on the physical and mental health, the investigation of the factors affecting the development of PCOS is crucial. Hexose-6-phosphate dehydrogenase (H6PD) is a microsomal enzyme that catalyzes the first two reactions of the oxidative chain of the pentose phosphate pathway. The present study examined the polymorphisms of the H6PD gene (R453Q and D151A) in PCOS patients of Iranian Kurdish women.
Materials and Methods: In this case-control study, a total, of 200 female volunteers in two equal groups participated in our study. The PCOS patients were selected based on the Rotterdam diagnostic criteria. The association of H6PD gene polymorphisms, D151A and R453Q, with the development of PCOS were investigated. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping. Statistical analysis was applied by the SPSS (version 16) software.
Results: Statistically significant lower frequencies of AA+AG genotype (37% vs. 55%, P=0.01) and A allele (22.5%
vs. 34%, P=0.01) of R453Q were observed in the patients compared to the controls. In the case of D151A, no significant
differences were observed in the frequency of genotypes and alleles between the two groups.
The findings of this study suggest that variants of H6PD R453Q affect the risk of PCOS.
多囊卵巢综合征（PCOS）是育龄女性中最常见的内分泌和代谢紊乱疾病。由于PCOS对身心健康有影响，因此研究影响PCOS发生发展的因素至关重要。6-磷酸己糖脱氢酶（H6PD）是一种微粒体酶，催化磷酸戊糖途径氧化链的前两个反应。本研究检测了伊朗库尔德族女性PCOS患者中H6PD基因（R453Q和D151A）的多态性。
在这项病例对照研究中，共有200名女性志愿者分为两组参与研究。PCOS患者根据鹿特丹诊断标准选取。研究H6PD基因多态性D151A和R453Q与PCOS发生发展的相关性。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法进行基因分型。使用SPSS（16版）软件进行统计分析。
与对照组相比，患者中R453Q的AA + AG基因型频率（37%对55%，P = 0.01）和A等位基因频率（22.5%对34%，P = 0.01）在统计学上显著降低。对于D151A，两组之间基因型和等位基因频率未观察到显著差异。
本研究结果表明，H6PD R453Q变异影响PCOS风险。
