Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, P.R China.
Reprod Biol Endocrinol. 2011 Apr 14;9:46. doi: 10.1186/1477-7827-9-46.
Tribbles 3 (TRB3) affects insulin signalling by inhibiting insulin-stimulated Akt phosphorylation and subsequent activation. A single nucleotide polymorphism located in the second extron of the human TRB3 gene is thought to be associated with insulin resistance. The latter is a core abnormality in PCOS independent of obesity. The present study was designed to clarify the relationships of TRB3 Q84R polymorphism with PCOS in a Chinese women group.
A case-control study with two groups: PCOS group (n = 336) and control group of infertility women for tubal and/or male factor (n = 116) was performed. Genotyping of the TRB3 R84 variant was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
The frequency of genotype QQ in PCOS women was significantly lower, while genotype QR and RR were significantly higher than that in control group (p < 0.05). However, the difference disappeared after adjustment for BMI. At glucose1h, glucose2h and insulin2h point, the difference between QQ individuals and R84 allele carriers in PCOS women reached statistical significance during OGTT (p < 0.05).
TRB3 Q84R polymorphism is associated with obesity and especially glucose metabolism and not associated with polycystic ovary syndrome because of compositional characteristics of phenotype in Chinese PCOS women.
Tribbles 3(TRB3)通过抑制胰岛素刺激的 Akt 磷酸化及其随后的激活来影响胰岛素信号转导。位于人类 TRB3 基因第二外显子中的一个单核苷酸多态性被认为与胰岛素抵抗有关。后者是多囊卵巢综合征(PCOS)的核心异常,与肥胖无关。本研究旨在阐明 TRB3 Q84R 多态性与中国女性 PCOS 之间的关系。
采用病例对照研究,分为两组:PCOS 组(n=336)和因输卵管和/或男性因素导致不孕的对照组(n=116)。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测 TRB3 R84 变异体的基因型。
PCOS 女性中 QQ 基因型的频率明显降低,而 QR 和 RR 基因型的频率明显升高(p<0.05)。然而,调整 BMI 后差异消失。在 OGTT 中,PCOS 女性中 QQ 个体和 R84 等位基因携带者在葡萄糖 1h、葡萄糖 2h 和胰岛素 2h 点的差异达到统计学意义(p<0.05)。
TRB3 Q84R 多态性与肥胖有关,特别是与葡萄糖代谢有关,而与中国 PCOS 女性的表型组成特征无关,因此与多囊卵巢综合征无关。