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常见变异 rs11646213 与汉族女性先兆子痫有关。

The common variant rs11646213 is associated with preeclampsia in Han Chinese women.

机构信息

Department of Obstetrics and Gynecology, Provincial Hospital Affiliated to Shandong University, Jinan, China.

出版信息

PLoS One. 2013 Aug 19;8(8):e71202. doi: 10.1371/journal.pone.0071202. eCollection 2013.

DOI:10.1371/journal.pone.0071202
PMID:23976997
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3747203/
Abstract

BACKGROUND

Preeclampsia, characterized by hypertension and proteinuria, is a multifactorial disease caused by complex interactions between environmental and genetic factors. A recent genome-wide association study of blood pressure reported an association between hypertension and rs11646213. This study evaluated the association between preeclampsia and rs11646213.

METHODS

A total of 454 cases and 460 controls were recruited to participate in this study. The single nucleotide polymorphism (SNP) rs11646213 was genotyped by polymerase chain reaction (PCR) and direct sequencing.

RESULTS

The allele frequency of rs11646213 was significantly different between the preeclampsia and control groups (P = 0.017, OR = 1.36, 95% CI = 1.06-1.76). Differences were particularly significant in the severe preeclampsia subgroup (P = 0.002, OR = 1.54, 95% CI = 1.17-2.03) and the early-onset preeclampsia subgroup (P = 0.004, OR = 1.57, 95% CI = 1.16-2.13). Genotyping analysis showed that the T allele of rs11646213 could confer a risk for preeclampsia, severe preeclampsia and early-onset preeclampsia.

CONCLUSIONS

Rs11646213 upstream of the CDH13 gene is associated with preeclampsia in Han Chinese women.

摘要

背景

子痫前期是一种多因素疾病,其特征是高血压和蛋白尿,由环境和遗传因素之间的复杂相互作用引起。最近一项关于血压的全基因组关联研究报告了高血压与 rs11646213 之间的关联。本研究评估了 rs11646213 与子痫前期之间的关联。

方法

共招募了 454 例病例和 460 例对照参加本研究。通过聚合酶链反应(PCR)和直接测序对单核苷酸多态性(SNP)rs11646213 进行基因分型。

结果

rs11646213 的等位基因频率在子痫前期组和对照组之间存在显著差异(P=0.017,OR=1.36,95%CI=1.06-1.76)。在重度子痫前期亚组(P=0.002,OR=1.54,95%CI=1.17-2.03)和早发型子痫前期亚组(P=0.004,OR=1.57,95%CI=1.16-2.13)中差异尤为显著。基因分型分析表明,rs11646213 的 T 等位基因可能增加子痫前期、重度子痫前期和早发型子痫前期的发病风险。

结论

CDH13 基因上游的 rs11646213 与汉族妇女子痫前期有关。

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