Department of Internal Medicine, Division of Endocrinology and Metabolism, Medical University of Graz, Graz, Austria.
Horm Metab Res. 2011 Oct;43(11):743-7. doi: 10.1055/s-0031-1286279. Epub 2011 Oct 18.
In a recent genome-wide association study investigating Han Chinese PCOS women 3 loci that are strongly associated with PCOS were identified on chromosome 2p16.3 (rs13405728), 2p21 (rs13429458), and 9q33.3 (rs2479106). The aim of the study was to investigate the impact of rs13405728, rs13429458, and rs2479106 variants on PCOS susceptibility in a Caucasian cohort of PCOS and control women. Metabolic, endocrine, and anthropometric measurements and oral glucose tolerance tests were performed in 545 PCOS and 317 control women. The rs13405728, rs13429458, and rs2479106 polymorphisms were genotyped. There was no significant difference in genotype frequencies of rs13405728 and rs13429458 variants between PCOS and controls. There was a trend towards an association of the rs2479106 variant with PCOS susceptibility (p=0.053). PCOS women with the rs2479106 GG genotype had significantly higher WHR than PCOS women carrying the AG and AA genotype (p=0.034 and p=0.020, respectively). Moreover, QChol/HDL and LDL levels were significantly higher in PCOS women carrying the rs2479106 GG genotype when compared to those carrying the AA genotype (p=0.024 and p=0.035, respectively). PCOS women carrying the G allele of rs13405728 had significantly higher AUCgluc, glucose-30 min, and AUCins levels than those carrying the AA genotype (p=0.039, p=0.047, and p=0.044, respectively). In PCOS women, rs13405728 genotypes are associated with glucose and insulin metabolism. Moreover, rs2479106 genotypes were associated with increased WHR levels and an adverse serum lipid profile. Further, we observed a trend towards decreased PCOS susceptibility within carriers of the rs2479106 G-allele. Further studies in large Caucasian PCOS cohorts are warranted to confirm our findings.
在一项针对汉族 PCOS 女性的全基因组关联研究中，鉴定出与 PCOS 强烈相关的 3 个位于染色体 2p16.3(rs13405728)、2p21(rs13429458)和 9q33.3(rs2479106)的位点。该研究旨在调查 rs13405728、rs13429458 和 rs2479106 变体对高加索 PCOS 患者和对照女性 PCOS 易感性的影响。对 545 名 PCOS 女性和 317 名对照女性进行了代谢、内分泌和人体测量学测量以及口服葡萄糖耐量试验。对 rs13405728、rs13429458 和 rs2479106 多态性进行了基因分型。在 PCOS 和对照组中，rs13405728 和 rs13429458 变体的基因型频率无显著差异。rs2479106 变体与 PCOS 易感性呈关联趋势(p=0.053)。携带 rs2479106 GG 基因型的 PCOS 女性的 WHR 显著高于携带 AG 和 AA 基因型的 PCOS 女性(p=0.034 和 p=0.020)。此外，与携带 AA 基因型的 PCOS 女性相比，携带 rs2479106 GG 基因型的 PCOS 女性的 QChol/HDL 和 LDL 水平显著升高(p=0.024 和 p=0.035)。携带 rs13405728 中的 G 等位基因的 PCOS 女性的 AUCgluc、葡萄糖-30 分钟和 AUCins 水平显著高于携带 AA 基因型的 PCOS 女性(p=0.039、p=0.047 和 p=0.044)。在 PCOS 女性中，rs13405728 基因型与葡萄糖和胰岛素代谢有关。此外，rs2479106 基因型与增加的 WHR 水平和不良的血清脂质谱有关。此外，我们观察到携带 rs2479106 G-等位基因的个体中 PCOS 易感性呈下降趋势。需要在大型高加索 PCOS 队列中进行进一步的研究来证实我们的发现。
