Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, Pakistan.
Citi Lab and Research Centre, Lahore, Pakistan.
Gynecol Endocrinol. 2021 May;37(5):456-461. doi: 10.1080/09513590.2020.1822803. Epub 2020 Sep 22.
Polycystic ovarian syndrome (PCOS) is considered the most common multifactorial endocrinopathy. Genetic factors play an essential role in the pathogenesis of PCOS. CYP 17 enzyme is responsible for androgenesis, while CYP 19 enzyme works for androgen conversion into aromatic estrogen. Several studies have reported their association with PCOS. This study was aimed to investigate the association of cytochrome P450c17α gene () 5'-untranslated region A1/(rs743572) genetic polymorphism and of cytochrome P450 or aromatase () gene polymorphism with the susceptibility to PCOS in reproductive-age women from Punjab, Pakistan.
We performed a case-control association study was conducted, including 204 PCOS patients and 100 controls. Genotyping of SNP rs2414096 ( gene) and P450c17α gene () 5'-untranslated region A1 was performed on genomic DNA using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Statistical analysis was performed to find out the association of phenotypic and genotypic characters in etiopathology of PCOS.
The genotype distribution for 5'-UTR MspA1 (TT, TC, CC) revealed that the frequency of genotype TC is significantly higher in PCOS patients (54.9%) vs. controls (OR 4.97, 95% CI 2.75-8.33, <.001) (12%). The genotype distribution for (GG, GA, AA) showed significantly higher frequency of GA (58.%) and AA (23.5%) in patients as compared to cases (18% and 8%, respectively) (OR 5.49, 95% CI 3.61-8.34, <.001). Body mass index (BMI), waist, hip, infertility and family history of infertility, PCOS, diabetes, and hypertension were found significantly associated with PCOS. genotypes were found significantly associated with PCOS patients having paraclinical traits of infertility and family history of infertility, while genotypes showed no significant association with any paraclinical traits in PCOS patients.
This is the first study on PCOS genotypes from Pakistan and results suggest that 5'-UTR MspA1 (rs743572) (genotype TC) and gene (rs2414096) (genotype GA) polymorphisms are significantly associated with susceptibility to PCOS in Pakistani women having the traits of infertility and family history of hypertension.
多囊卵巢综合征（PCOS）被认为是最常见的多因素内分泌疾病。遗传因素在 PCOS 的发病机制中起着重要作用。CYP17 酶负责雄激素生成，而 CYP19 酶则将雄激素转化为芳香雌激素。已有多项研究报道了它们与 PCOS 的关联。本研究旨在探讨细胞色素 P450c17α 基因（）5'-非翻译区 A1/（rs743572）遗传多态性和细胞色素 P450 或芳香化酶（）基因多态性与巴基斯坦旁遮普地区育龄妇女 PCOS 易感性的关系。
我们进行了病例对照关联研究，包括 204 例 PCOS 患者和 100 例对照。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，对 SNP rs2414096（基因）和 P450c17α 基因（）5'-非翻译区 A1 的基因分型进行了基因组 DNA。进行了统计分析，以找出 PCOS 发病机制中表型和基因型特征的关联。
5'-UTR MspA1（TT、TC、CC）的基因型分布表明，TC 基因型在 PCOS 患者（54.9%）中的频率明显高于对照组（OR 4.97，95%CI 2.75-8.33，<0.001）（12%）。（GG、GA、AA）的基因型分布显示，与病例相比，GA（58.）和 AA（23.5%）的频率明显更高（分别为 58%和 23.5%）（OR 5.49，95%CI 3.61-8.34，<0.001）。体重指数（BMI）、腰围、臀围、不孕和不孕家族史、PCOS、糖尿病和高血压与 PCOS 明显相关。还发现基因型与 PCOS 患者具有不孕和不孕家族史的临床特征明显相关，而基因型与 PCOS 患者的任何临床特征均无明显关联。
这是巴基斯坦关于 PCOS 基因型的第一项研究，结果表明，5'-UTR MspA1（rs743572）（TC 基因型）和基因（rs2414096）（GA 基因型）多态性与巴基斯坦具有不孕和高血压家族史的妇女对 PCOS 的易感性显著相关。
