Department of Obstetrics and Gynecology, The State Key Laboratory of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing, China.
Gynecol Endocrinol. 2013 Feb;29(2):182-5. doi: 10.3109/09513590.2012.731113. Epub 2012 Nov 2.
To evaluate the relationship between Estrogen receptor α gene (ESR1) polymorphisms and idiopathic premature ovarian failure (POF) in Chinese women.
155 idiopathic POF and 150 healthy controls were recruited in this study. All subjects were analyzed at the PvuII and XbaI loci of the ESR1 gene using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP).
The frequency of the P allele of the PvuII polymorphisms was 38.1% in POF women, which was significantly higher than controls (28.0%) (p = 0.008). And for the XbaI polymorphisms, the X allele was 21.0% in POF patients, compared to 13.3% in control women (p = 0.013). Carriers of the PP genotype had higher increased risk of POF than those of the pp genotypes (p = 0.011), whereas in three genotypes of the XbaI polymorphisms, no difference was found in the prediction value of POF. In addiction, the P-X haplotype was associated with a significantly increased risk for idiopathic POF.
These data suggest that the PvuII and XbaI polymorphisms of ESR1 gene are associated with POF, which may be a potential genetic risk factor of idiopathic POF. More researches are needed to determine whether the findings are generalizable to other populations.
评估雌激素受体α基因（ESR1）多态性与中国女性特发性卵巢早衰（POF）的关系。
本研究纳入了 155 例特发性 POF 和 150 例健康对照。所有受试者均采用聚合酶链反应（PCR）-限制性片段长度多态性（RFLP）分析 ESR1 基因的 PvuII 和 XbaI 位点。
POF 女性 PvuII 多态性的 P 等位基因频率为 38.1%，明显高于对照组（28.0%）（p=0.008）。对于 XbaI 多态性，POF 患者的 X 等位基因频率为 21.0%，而对照组女性为 13.3%（p=0.013）。与 pp 基因型相比，PP 基因型携带者发生 POF 的风险更高（p=0.011），而在 XbaI 多态性的三种基因型中，POF 的预测值没有差异。此外，P-X 单倍型与特发性 POF 的风险显著增加相关。
这些数据表明，ESR1 基因的 PvuII 和 XbaI 多态性与 POF 相关，这可能是特发性 POF 的潜在遗传危险因素。需要进一步研究确定这些发现是否适用于其他人群。
