STUDY ON FOLLICLE STIMULATING HORMONE RECEPTOR GENE POLYMORPHISMS IN SOUTH INDIAN WOMEN WITH POLYCYSTIC OVARIAN SYNDROME

Himavanth Reddy Kambalachenu, S. Paul, S. Nellepalli, P. Venkatachalam
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引用次数: 10

Abstract

Polycystic Ovarian Syndrome (PCOS) is the most common endocrine disorder of women in their reproductive ages. Though PCOS is a complex, heterogeneous disorder, but there is strong evidence for its genetic predisposition. The aim was to study th e association of Follicle Stimulating Hormone Recep tor (FSHR) gene polymorphisms rs1394205, rs6165 and rs6166 in south Indian women with PCOS. The present case control study includes 97 women with P COS and 101 healthy women without any history of infertility. Polymerase chain reaction and Restrict ion fragment length polymorphism based method were applied to identify the genotypes. Distribution of alleles and genotypes did not differ significantly between PCOS and controls (p-value: >0.05). Genotypic association analysis shows a significant association of rs6166 (G/G) genotype with PCOS in recessive gene model (P value: 0.04). Haplotype frequencies and the ir association analysis did not show any significant d ifference between PCOS and controls. No strong linkage is observed between rs6165 and rs6166 in the present study. Our study reveals significant association of FSHR gene polymorphism, rs6166 with PCOS in recessive gene model. When we observe the genotype frequencies, high frequency of heterozygotes in the population s hows that rs6166 (G/A) in heterozygote condition is advantage to the population.
南印度多囊卵巢综合征妇女促卵泡激素受体基因多态性研究
多囊卵巢综合征(PCOS)是育龄期女性最常见的内分泌疾病。多囊卵巢综合征是一种复杂的异质性疾病,但有强有力的证据表明其遗传易感性。目的是研究促卵泡激素受体(FSHR)基因多态性rs1394205、rs6165和rs6166与南印度多囊卵巢综合征妇女的关系。本病例对照研究包括97名pcos女性和101名无不孕病史的健康女性。采用聚合酶链反应和限制性离子片段长度多态性方法鉴定基因型。PCOS患者的等位基因和基因型分布与对照组无显著差异(p值:0.05)。基因型关联分析显示,rs6166 (G/G)基因型与PCOS在隐性基因模型中呈显著相关(P值为0.04)。单倍型频率和ir关联分析未显示PCOS与对照之间有显著差异。本研究未发现rs6165和rs6166之间存在强关联。在隐性基因模型中,FSHR基因多态性、rs6166与PCOS存在显著相关性。在观察基因型频率时,群体中杂合子的频率较高,说明处于杂合子状态的rs6166 (G/A)对群体有利。
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