子宫内膜异位症相关不孕症女性中多巴胺受体D2的多态性变异

Polymorphic variants in the dopamine receptor D2 in women with endometriosis-related infertility.

作者信息

Szczepańska Malgorzata, Mostowska Adrianna, Wirstlein Przemyslaw, Skrzypczak Jana, Misztal Matthew, Jagodziński Paweł P

机构信息

Department of Obstetrics, Gynecology and Gynecological Oncology, Division of Reproduction, Poznan University of Medical Sciences, Poznań 60‑781, Poland.

Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznań 60‑781, Poland.

出版信息

Mol Med Rep. 2015 Aug;12(2):3055-60. doi: 10.3892/mmr.2015.3733. Epub 2015 May 6.

DOI:10.3892/mmr.2015.3733

PMID:25955176

Abstract

Data suggests that dopamine receptor DRD2 gene variants may contribute to hyperprolactinemia and that they may be risk factors for endometriosis-related infertility. The purpose of the present study was to determine whether nucleotide variants of the DRD2 gene may be associated with infertility related to endometriosis. Five DRD2 SNPs, rs1800497, rs6277, rs2283265, rs4245146 and rs4648317, which are located in different blocks of linkage disequilibrium, were studied in 151 cases and 381 controls. No significant differences between DRD2 rs1800497, rs6277, rs2283265, rs4245146 and rs4648317 genotype, allele nor haplotype frequencies were observed in women with endometriosis-related infertility compared with the control group. The present results did not confirm DRD2 gene variants to be genetic risk factors for endometriosis-related infertility.

摘要

数据表明，多巴胺受体DRD2基因变异可能导致高催乳素血症，并且可能是子宫内膜异位症相关不孕症的风险因素。本研究的目的是确定DRD2基因的核苷酸变异是否可能与子宫内膜异位症相关不孕症有关。对位于不同连锁不平衡区域的5个DRD2单核苷酸多态性（SNP），即rs1800497、rs6277、rs2283265、rs4245146和rs4648317，在151例病例和381例对照中进行了研究。与对照组相比，在患有子宫内膜异位症相关不孕症的女性中，未观察到DRD2 rs1800497、rs6277、rs2283265、rs4245146和rs4648317基因型、等位基因及单倍型频率存在显著差异。本研究结果未证实DRD2基因变异是子宫内膜异位症相关不孕症的遗传风险因素。