Association between <i>LRH-1</i> single nucleotide polymorphisms and unexplained recurrent spontaneous abortion in Chinese Han couples

<p>To explore the genetic relationships between <i>LRH-1</i> (rs2816948), <i>CYP19</i> (rs727479 and rs700518), and <i>P450scc</i> (rs4077582) as a potential mechanism behind unexplained recurrent spontaneous abortions in a Chinese Han population. A case-control study was used and featured two groups: Patients with unexplained recurrent miscarriage (<i>n</i> = 82, abortion group) and those who voluntary surrendered of a normal early pregnancy (<i>n</i> = 97, control group). Abortion villi samples were obtained from all patients. Genomic DNA was later extracted and sequenced, after which statistical analyses performed to assess the relationship between single nucleotide polymorphisms and unexplained recurrent spontaneous abortions. There were significant differences in the genotypic and allelic distribution (<i>p</i> < .05) for <i>CYP19</i> (rs727479) between the abortion and the control groups. There were no significant differences in the genotypic or allelic distributions (<i>p</i> > .05) for either the <i>LRH-1</i> (rs2816948) or <i>CYP19</i> (rs700518). There were also significant genotypic differences (<i>p</i> < .05) for <i>P450scc</i> (rs4077582), but no significant differences for its allelic distribution (<i>p</i> > .05). There was a significant correlation between the occurrence of unexplained recurrent spontaneous abortion and <i>CYP19</i> (rs727479) single nucleotide polymorphisms.</p> <p>本研究将探讨LRH-1（rs2816948）, CYP19（rs727479和rs700518）和P450scc（rs4077582）作为中国汉族人群原因不明的复发性自然流产的潜在机制之间的遗传关系。采用病例对照研究, 分为两组：原因不明的复发性流产患者（n = 82, 流产组）和自愿放弃正常早孕的患者（n = 97, 对照组）。从所有患者获得流产绒毛样品, 随后提取基因组DNA并测序, 之后进行统计分析以评估单核苷酸多态性与不明原因的复发性自然流产之间的关系。在流产和对照组之间, CYP19（rs727479）的基因型和等位基因分布（p <.05）存在显著差异。对于LRH-1（rs2816948）或CYP19（rs700518）, 基因型或等位基因分布（p> .05）没有显著差异。 P450scc（rs4077582）也存在显著的基因型差异（p <.05）, 但其等位基因分布没有显著差异（p> .05）。 不明原因复发性自然流产的发生与CYP19（rs727479）单核苷酸多态性之间存在显著相关性。</p