雌激素受体β基因CA重复序列多态性与原因不明月经过少的关系

The association of a CA repeat polymorphism in ERβ gene with unknown aetiology hypomenorrhea

目的:研究雌激素受体β(Estrogen receptor β,ERβ)基因CA重复序列多态性与原因不明月经过少关系。方法:选择西南地区的100名月经正常人作为正常对照组,100名原因不明月经过少患者作为病例组。同时对人ERβ基因5号内含子的高变区CA重复序列进行纯化、克隆和序列分析,阐明该CA重复序列多态性在实验组与对照组当中的分布情况及与原因不明月经过少的关系。结果:共分离出9种等位基因,其(CA)n重复数目为16～24。正常组和病例组的等位基因的分布频率差异无显著性(χ2=7.155,P=0.520)。以重复次数n≤20作为SS型,n>20为LL型。SS基因型频率实验组为66%,对照组为51%,OR值:1.865倍(95%CI:1.055～3.298)。再比较两组病人SS型和LL等位基因型的分布频率,差异有显著性(χ2=4.634,P=0.031)。结论:ERβ基因CA重复序列多态性与原因不明月经过少有关,SS型等位基因型可能是原因不明月经过少的危险因素。

Objective：To investigate the association of a （CA）n dinucleotide repeat polymorphism of ERβ with unknown aetiology hypomenorrhea. Methods：We choosed 100 eumenorrhea women as control group and another 100 hypomenorrhea patients as case group from Southwestern China. At the same time, we bring depuration, clone and sequence analysis to CA repeat polymorphism in 5 intron region of estrogen receptor β to illuminate its repeated sequence polymorphism distributing between control and case group and its relationship with unknown aetieological hypomenorrhea. Results：We got 9 alleles and the repeated number of （CA） n was 16-24. There was not difference between distributing frequencies of CA repeat polymorphism in control and case groups（X^2=7.155,P=0.520）. SS genotype was defined as repeat number n≤20,LL for n〉20. Case group SS genotype rate was 66%,control group 51%,OR=1.865 （95%CI：1.055 ~3.298）.The SS and LL allele genotypes frequency was compared in two groups and the difference was significant （X^2=4.634,P=0.031）. Conclusion：ERβ gene CA repeat polymorphism is related to unknown aetiological hypomenorrhea. SS allele genotype may be the risk factor of unknown aetiological hypomenorrhea.