Liu Qiaorui, Hong Jie, Cui Bin, Zhang Yifei, Gu Weiqiong, Chi Zhenni, Su Yuxia, Ning Guang
Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrinology and Metabolism, Ruijin Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, People's Republic of China.
Endocrine. 2008 Apr;33(2):165-70. doi: 10.1007/s12020-008-9069-7. Epub 2008 May 16.
Trinucleotide repeats CAG(n) in androgen receptor gene is thought to be a potential site of genetic susceptibility to polycystic ovary syndrome (PCOS). However, previous studies of PCOS have shown variable association of CAG(n )polymorphism with PCOS. In order to evaluate CAG(n )polymorphism in Chinese women with PCOS, we have genotyped CAG(n) repeat numbers in female Chinese subjects (148 PCOS patients and 104 control subjects). The mean CAG(n) repeat lengths of PCOS patients and control subjects were similar (22.88 +/- 1.76 vs. 22.85 +/- 1.60; P = NS). No difference in the mean CAG(n) repeat lengths of hyperandrogenic and nonhyperandrogenic subgroups of PCOS patients was found (22.86 +/- 1.68 vs. 22.91 +/- 1.84; P = NS). Moreover, no difference was found in the term of mean CAG(n) repeat lengths in the nonhyperandrogenic subgroup and the control subjects (22.86 +/- 1.68 vs. 22.85 +/- 1.60; P = NS). However, mean CAG(n) repeat lengths were negatively correlated with serum total cholesterol and low-density lipoprotein-cholesterol concentration in PCOS patients (r = -0.182, P < 0.05 and r = -0.210, P < 0.05, respectively), but not with total testosterone, body mass index, waist and hip circumferences. The CAG(n) repeat length polymorphism may not be a major determinant of PCOS, but it may influence the lipid metabolism of PCOS patients.
雄激素受体基因中的三核苷酸重复序列CAG(n)被认为是多囊卵巢综合征(PCOS)遗传易感性的一个潜在位点。然而,先前关于PCOS的研究表明,CAG(n)多态性与PCOS的关联存在差异。为了评估中国PCOS女性中的CAG(n)多态性,我们对中国女性受试者(148例PCOS患者和104例对照受试者)的CAG(n)重复数进行了基因分型。PCOS患者和对照受试者的平均CAG(n)重复长度相似(22.88±1.76对22.85±1.60;P=无显著性差异)。PCOS患者的高雄激素血症和非高雄激素血症亚组的平均CAG(n)重复长度没有差异(22.86±1.68对22.91±1.84;P=无显著性差异)。此外,非高雄激素血症亚组和对照受试者的平均CAG(n)重复长度也没有差异(22.86±1.68对22.85±1.60;P=无显著性差异)。然而,PCOS患者的平均CAG(n)重复长度与血清总胆固醇和低密度脂蛋白胆固醇浓度呈负相关(r=-0.182,P<0.05和r=-0.210,P<0.05),但与总睾酮、体重指数、腰围和臀围无关。CAG(n)重复长度多态性可能不是PCOS的主要决定因素,但它可能影响PCOS患者的脂质代谢。