Variation in resistin gene promoter not associated with polycystic ovary syndrome
Variation in resistin gene promoter not associated with polycystic ovary syndrome
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DOI：
10.2337/diabetes.52.1.214
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发表时间：
2003-01-01
期刊：
影响因子：
7.7
通讯作者：
Legro, RS
中科院分区：
文献类型：
--
作者：
Urbanek, M;Du, YZ;Legro, RS
多囊卵巢综合征(PCOS)是无排卵性不孕症的主要原因之一，在美国大约有4%-7%的育龄妇女受到影响。它的特点是高雄激素血症和慢性无排卵，并与胰岛素抵抗、肥胖和2型糖尿病风险增加有关。在候选基因的筛选中，发现了染色体19p13.3上的一个区域，该区域显示了与多囊卵巢综合征的连锁和关联的重要证据。多囊卵巢综合征的一个很有希望的候选基因--抵抗素，正好映射到这个区域。抵抗素是一种蛋白质激素，被认为可以调节葡萄糖耐量和胰岛素的作用。我们测试了抵抗素基因启动子区域的单核苷酸多态与三种表型之间的关联：多囊卵巢综合征、肥胖和胰岛素抵抗。我们没有发现与任何表型相关的证据。因此，抵抗素基因的变异不太可能解释我们观察到的染色体19p13.3与PCOS之间的强烈关联。相反，这种关联很可能是由于该区域的某个基因或遗传因素尚未确定。
Polycystic ovary syndrome (PCOS) is a leading cause of anovulatory infertility and affects similar to4-7% of reproductive age women in the U.S. It is characterized by hyperandrogenemia and chronic anovulation and is associated with insulin resistance, obesity, and increased risk for type 2 diabetes. In a screen of candidate genes, a region on chromosome 19p13.3 was identified that shows significant evidence for both linkage and association with PCOS. A promising candidate gene for PCOS, resistin, maps to exactly this region. Resistin is a protein hormone thought to modulate glucose tolerance and insulin action. We tested for association between a single nucleotide polymorphism in the promoter region of the resistin gene and three phenotypes: PCOS, obesity, and insulin resistance. We did not find evidence for association with any of the phenotypes. It is therefore unlikely that variation in the resistin gene accounts for the strong association that we observe between chromosome 19p13.3 and PCOS. Instead, this association is most likely due to a gene or genetic element in this region that has not been identified.