Department of Medicine, The University of Chicago, Chicago, IL 60637, USA.
Diabetes Res Clin Pract. 2009 Dec;86(3):186-92. doi: 10.1016/j.diabres.2009.09.002. Epub 2009 Sep 25.
Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women. It is characterized by chronic anovulation, hyperandrogenism, obesity and a predisposition to type 2 diabetes mellitus (T2DM). Since obesity plays an important role in the etiology of PCOS, we sought to determine if variants in the perilipin gene (PLIN), a gene previously implicated in the development of obesity, were also associated with PCOS. We typed six single nucleotide polymorphisms (haplotype tagging and/or previously associated with obesity or related metabolic traits) in PLIN in 305 unrelated non-Hispanic white women (185 with PCOS and 120 without PCOS). None of the variants was associated with PCOS (P<0.05). However, the variant rs1052700*A was associated with increased risk for glucose intolerance (impaired glucose tolerance or T2DM) in both non-PCOS (OR=1.75 [1.02-3.01], P=0.044) and PCOS subjects (OR=1.67 [1.08-2.59], P=0.022). It was also associated with increased LDL (P=0.007) and total cholesterol levels (P=0.042). These results suggest that genetic variation in PLIN may affect glucose and lipid metabolism in women both with and without PCOS.
多囊卵巢综合征（PCOS）是女性最常见的内分泌疾病之一。其特征为慢性无排卵、高雄激素血症、肥胖和 2 型糖尿病（T2DM）易感性。由于肥胖在 PCOS 的发病机制中起重要作用，我们试图确定先前与肥胖发生相关的 perilipin 基因（PLIN）中的变异是否也与 PCOS 相关。我们在 305 名非西班牙裔白人女性（185 名患有 PCOS，120 名无 PCOS）中对 PLIN 的 6 个单核苷酸多态性（单体型标记和/或先前与肥胖或相关代谢特征相关）进行了分型。没有一个变异与 PCOS 相关（P<0.05）。然而，rs1052700*A 变异与非 PCOS 患者（OR=1.75 [1.02-3.01]，P=0.044）和 PCOS 患者（OR=1.67 [1.08-2.59]，P=0.022）的葡萄糖耐量异常（糖耐量受损或 T2DM）风险增加相关。它还与 LDL（P=0.007）和总胆固醇水平升高（P=0.042）相关。这些结果表明，PLIN 中的遗传变异可能会影响患有和不患有 PCOS 的女性的葡萄糖和脂质代谢。
