Department of Biochemistry, Osmania University, Hyderabad, 500 007, India.
Infertility Institute and Research Centre (IIRC), Secunderabad, India.
Arch Gynecol Obstet. 2020 Oct;302(4):1033-1040. doi: 10.1007/s00404-020-05658-4. Epub 2020 Jun 24.
The purpose of the study was to investigate the association between gene phosphate and tensin homolog (PTEN) single nucleotide polymorphisms (SNPs) and risk of developing polycystic ovary syndrome (PCOS) in South Indian women. PTEN is one of the most important tumor suppressor genes that regulate cell proliferation, migration, and death. It is also involved in the maintenance of genome stability. PCOS is one of the most common endocrine disorders among women of reproductive age. It is a heterogeneous syndrome characterized by abnormal reproductive cycles, irregular ovulation, hormonal imbalance, hyperandrogenism, acne and hirsutism.
What is the association status of PTEN SNPs with PCOS?
A total of 240 subjects were recruited in this case-control study comprising 110 patients with PCOS and 130 individuals without PCOS. All the subjects were of South Indian origin. The genotyping of PTEN SNPs (rs1903858 A/G, rs185262832G/A and rs10490920T/C) was carried out on DNA from subjects by polymerase chain reaction (PCR) and sequencing analysis. Haplotype frequencies for multiple loci and the standardized disequilibrium coefficient (D') for pairwise linkage disequilibrium (LD) were surveyed by Haploview Software.
Our results showed significant increase in the frequencies of rs1903858 A/G (P = 0.0016), rs185262832 G/A (P = 0.0122) and rs10490920 T/C (P = 0.0234) genotypes and alleles in cases compared to controls.
The PTEN (rs1903858A/G, rs185262832G/A and rs10490920T/C) gene polymorphisms may constitute an inheritable risk factor for PCOS in South Indian women.
本研究旨在探讨磷酸酶和张力蛋白同源物（PTEN）单核苷酸多态性（SNP）与印度南部妇女多囊卵巢综合征（PCOS）发病风险的关系。PTEN 是最重要的肿瘤抑制基因之一，可调节细胞增殖、迁移和死亡。它还参与维持基因组稳定性。PCOS 是育龄妇女中最常见的内分泌疾病之一。它是一种异质性综合征，其特征为异常生殖周期、排卵不规则、激素失衡、高雄激素血症、痤疮和多毛症。
PTEN SNP 与 PCOS 的关联状态如何？
本病例对照研究共纳入 240 例受试者，包括 110 例 PCOS 患者和 130 例非 PCOS 个体。所有受试者均为印度南部人。通过聚合酶链反应（PCR）和测序分析，对来自受试者的 DNA 进行 PTEN SNP（rs1903858A/G、rs185262832G/A 和 rs10490920T/C）的基因分型。通过 Haploview 软件调查多个位点的单倍型频率和标准化不平衡系数（D'）用于成对连锁不平衡（LD）。
我们的结果显示，与对照组相比，病例组 rs1903858A/G（P=0.0016）、rs185262832G/A（P=0.0122）和 rs10490920T/C（P=0.0234）基因型和等位基因的频率显著增加。
PTEN（rs1903858A/G、rs185262832G/A 和 rs10490920T/C）基因多态性可能构成印度南部妇女 PCOS 的可遗传危险因素。
