促炎细胞因子 TNF-α (rs1800629) 和 IL-6 (rs1800795) 在北印度女性多囊卵巢综合征发病机制中的作用

Parneet Kaur, Khushpreet Kaur, Rajinder Kaur
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摘要

背景:本研究旨在确定 TNF-α 和 IL-6 基因多态性及其表观效应和单倍型是否会导致北印度女性多囊卵巢综合征的发病:本研究旨在确定 TNF-α 和 IL-6 基因多态性及其表观效应和单倍型是否会导致北印度女性多囊卵巢综合征的发病:病例对照研究包括 401 名育龄女性(200 名 PCOS 病例和 201 名对照组)的 DNA 样本。通过四引物 ARMS PCR 对所有受试者的 TNF-α (-308 G/A) 和 IL-6 (-174 G/C) 基因进行基因分型:41.5%的多囊卵巢综合征女性患有多毛症,45.5%患有痤疮,36%患有脱发。在多囊卵巢综合征病例中观察到高体重指数(P=0.008)和高W/H比值(P=0.0001)。PCOS 病例中 -308 G/A TNF-α 的小等位基因 A 的频率明显高于对照组,表明 PCOS 的风险增加了 1.4 倍(p=0.05,OR=1.41,95% CI=1.00-1.99)。-174 G/C IL-6 基因与 PCOS 风险降低有关。这两个 SNPs 的所有可能组合的表观效应显示出统计学上的显著差异(交互 p 值=0.014),表明 TNF-α 和 IL-6 多态性对 PCOS 有调节作用。单倍型 HT3 AG(p=0.003,OR=2.22,95% CI=1.31-3.78)与 PCOS 风险增加有关:本研究结果表明,无论 TNF-α (-308 G/A) 和 IL-6 (-174 G/C) 基因的多态性如何,TNF-α 和 IL-6 都可能是北印度女性多囊卵巢综合征的致病因素。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Role of proinflammatory cytokines TNF-α (rs1800629) and IL-6 (rs1800795) in the pathogenesis of polycystic ovarian syndrome in North Indian females
Background: This study aimed to determine whether TNF-α and IL-6 gene polymorphism, their epistatic effects and haplotypes confer pathogenesis of PCOS in north Indian females. Methods: A case-control study comprising DNA samples of 401 females (200 PCOS cases and 201 controls) of reproductive age. All the subjects were genotyped for TNF-α (-308 G/A) and IL-6 (-174 G/C) genes by tetra-primer ARMS PCR. Results: There were 41.5% PCOS females revealing hirsutism, 45.5% acne and 36% alopecia. High BMI (p=0.008) and W/H ratio (p=0.0001) was observed among PCOS cases. Frequency of minor allele A for -308 G/A TNF-α was significantly higher in PCOS cases than controls indicating 1.4 fold increased risk for PCOS (p=0.05, OR=1.41, 95% CI=1.00-1.99). -174 G/C IL-6 gene was in association with the decreased risk of PCOS. The epistatic effects of all the possible combinations of both the SNPs shows statistically significant differences (Interaction p value=0.014) indicating modulating effects of TNF-α and IL-6 polymorphism in response to PCOS. Haplotype HT3 AG (p=0.003, OR=2.22, 95% CI=1.31-3.78) was associated with increased risk of PCOS. Conclusions: The present findings suggest that TNF-α and IL-6 might contribute to pathogenesis of PCOS in north Indian females irrespective of a polymorphism of TNF-α (-308 G/A) and IL-6 (-174 G/C) genes.
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