Estrogen receptor beta gene polymorphisms and risk of recurrent pregnancy loss: a case–control study

Abstract

Estrogen might play a key role in the maintenance of pregnancy. We investigated the role of the ER-β gene +1730 G/A, +1082 G/A, and CA repeat polymorphisms in Korean patients with recurrent pregnancy loss (RPL). Genotyping was performed using the TaqMan assay in 305 patients with at least two unexplained consecutive spontaneous miscarriages before 20 weeks of gestation and 299 controls. The genotype distributions of the ER-β gene +1082 G/A and +1730 G/A polymorphisms in the RPL group did not differ from those in the control group. When the analysis was restricted to patients with three or more consecutive spontaneous miscarriages, there were also no differences in the genotype distribution between this subgroup and controls. The number of CA repeats was distributed from 13 to 28 with two large peaks at 18 and 23 in patients with RPL and controls. Using the two major peaks as cut-offs, the allele distributions were compared between patients and controls. However, the distribution of ER-β gene CA repeats did not differ between women with recurrent miscarriage and controls. Findings of the current study suggest that the ER-β gene polymorphisms are not major determinants of the development of RPL in Korean women.

Chinese abstract

雌激素可能在妊娠维持中起关键作用。我们研究了在雌激素受体-β基因中的+1730 G/A, +1082 G/A及CA重复多态性在韩国复发性流产患者中的作用。基因分析使用TaqMan实验方法，选取305例至少有连续2次孕20周以前的不明原因的流产史的女性为病例组以及299例正常对照组。复发性流产组的雌激素受体-β基因中的+1082 G/A，+1730 G/A多态性基因分布与正常对照组没有区别。当分析仅限于有3次及以上连续自然流产史的患者时，在这个子组和对照组之间的基因型分布仍没有区别。复发性流产组和对照组中CA重复的数量分布从13到28，并且在18和23有两个主峰。以这两个主要的峰值作为临界，比较了两组之间等位基因的分布。然而雌激素受体-β基因中的CA重复的数量在复发性流产组和对照组中没有明显区别。目前的研究表明，雌激素受体-β基因的多态性不是韩国妇女复发性流产发展的主要决定性因素。

• ER-β gene
• habitual abortion
• recurrent pregnancy loss
• single-nucleotide polymorphism

Declaration of interest

The authors report that they have no conflicts of interest. This study was supported by a grant from the Korean Health Technology R&D Project, the Ministry of Health & Welfare, and the Republic of Korea (A120136).

Supplementary material available online

Supplementary Table 1