Bilibio João Paolo, Matte Úrsula, de Conto Emily, Cunha-Filho João Sabino
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.
Gynecol Endocrinol. 2015;31(11):866-9. doi: 10.3109/09513590.2015.1081165. Epub 2015 Sep 15.
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.
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。