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复发性流产与多巴胺受体(DRD2)基因型有关。

Recurrent miscarriage is associated with the dopamine receptor (DRD2) genotype.

作者信息

Bilibio João Paolo, Matte Úrsula, de Conto Emily, Cunha-Filho João Sabino

机构信息

a Department of Obstetrics and Gynecology , Universidade Federal do Rio Grande do Sul, Hospital de Clínicas de Porto Alegre , Porto Alegre, Rio Grande do Sul , Brazil.

出版信息

Gynecol Endocrinol. 2015;31(11):866-9. doi: 10.3109/09513590.2015.1081165. Epub 2015 Sep 15.

Abstract

The purpose of this research is to compare the prevalence of dopamine receptor D2 polymorphisms in women with recurrent miscarriage (RM) and healthy patients. Fifty-four women were enrolled in this case-control study. We performed DNA extraction of peripheral blood, followed by polymerase chain reaction to confirm single-strand polymorphisms and to sequence two polymorphisms: polymorphism 1 (rs6275) and polymorphism 2 (rs6277) in exon 7 of the dopamine receptor D2 (DRD2). The frequency of DRD2 polymorphism 2 (rs6277) was increased in the subjects with RM. An analysis of the DRD2 genotypes demonstrated an odds ratio of 2.37 (1.05-5.36, 95% confidence interval) for the polymorphism 2 (rs6277) in RM. The mean of the serum prolactin level was higher in the patients with RM (12.5 ng/ml) than in healthy women (8.1 ng/ml) p = 0.03. An excess homozygosity of the DRD2 polymorphism suggests a genetic predisposition to RMs, which could result in a mild serum prolactin increase. Thus, because of the potential role of prolactin in reproductive regulation, this polymorphism could play an important role in early pregnancy implantation and pregnancy maintenance.

摘要

本研究的目的是比较复发性流产(RM)女性与健康患者中多巴胺受体D2多态性的患病率。54名女性参与了这项病例对照研究。我们对外周血进行DNA提取,随后进行聚合酶链反应以确认单链多态性,并对多巴胺受体D2(DRD2)第7外显子中的两个多态性进行测序:多态性1(rs6275)和多态性2(rs6277)。RM患者中DRD2多态性2(rs6277)的频率增加。对DRD2基因型的分析显示,RM中多态性2(rs6277)的优势比为2.37(1.05 - 5.36,95%置信区间)。RM患者的血清催乳素水平均值(12.5 ng/ml)高于健康女性(8.1 ng/ml),p = 0.03。DRD2多态性的过度纯合表明存在RM的遗传易感性,这可能导致血清催乳素轻度升高。因此,由于催乳素在生殖调节中的潜在作用,这种多态性可能在早期妊娠着床和维持妊娠中起重要作用。

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