Department of Obstetrics and Gynecology, Affiliated Hospital of Medical College of Qingdao University, Qingdao, China.
Gynecol Obstet Invest. 2011;72(2):130-4. doi: 10.1159/000323542. Epub 2011 Apr 7.
BACKGROUND/AIMS: Melatonin receptor 1A (MTNR1A) gene is a regulator of circadian rhythms and reproductive processes. The MTNR1A gene is also a potential candidate gene of polycystic ovary syndrome (PCOS). The aim of the present study was to determine whether or not the MTNR1A gene polymorphism is associated with a predisposition to PCOS.
The single nucleotide polymorphism (SNP) rs2119882 in the MTNR1A gene was detected in 482 patients with PCOS and 522 healthy Chinese Han women. Subsequently, the association of MTNR1A gene variants with plasma glucose, insulin levels during oral glucose tolerance tests (OGTTs) and hormone levels was investigated.
The frequencies of genotypes and allelotypes of SNP rs2119882 differed significantly between PCOS cases and healthy controls (p < 0.001 and p = 0.002, respectively). SNP rs2119882 was associated with higher fasting plasma glucose concentrations (p = 0.021) and OGTT-induced insulin release at 0, 30, 60, and 120 min (all p < 0.05) in PCOS cases, as well as an increased homeostasis model assessment for insulin resistance (p = 0.005).
SNP rs2119882 is associated with PCOS.
背景/目的：褪黑素受体 1A（MTNR1A）基因是生物钟和生殖过程的调节剂。MTNR1A 基因也是多囊卵巢综合征（PCOS）的潜在候选基因。本研究旨在确定 MTNR1A 基因多态性是否与 PCOS 的易感性相关。
检测了 482 例 PCOS 患者和 522 例健康汉族女性 MTNR1A 基因中的单核苷酸多态性（SNP）rs2119882。随后，研究了 MTNR1A 基因变异与口服葡萄糖耐量试验（OGTT）期间血浆葡萄糖、胰岛素水平和激素水平的关系。
SNP rs2119882 的基因型和等位基因频率在 PCOS 病例和健康对照组之间差异显著（p < 0.001 和 p = 0.002）。SNP rs2119882 与 PCOS 患者空腹血浆葡萄糖浓度升高（p = 0.021）以及 0、30、60 和 120 分钟时 OGTT 诱导的胰岛素释放增加相关（均 p < 0.05），同时也与胰岛素抵抗的稳态模型评估（HOMA-IR）升高相关（p = 0.005）。
SNP rs2119882 与 PCOS 相关。
