醛固酮合成酶基因启动子-344T/C 多态性与青海省汉族孕妇子痫前期的相关性

李文佳 王茹 段倩 李长兴 李红荣 李建华

解剖学报 ›› 2021, Vol. 52 ›› Issue (2) : 306-310.

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解剖学报 ›› 2021, Vol. 52 ›› Issue (2) : 306-310. DOI: 10.16098/j.issn.0529-1356.2021.02.023
人类学

醛固酮合成酶基因启动子-344T/C 多态性与青海省汉族孕妇子痫前期的相关性

  • 李文佳1 王茹1 段倩1 李长兴1 李红荣2 李建华1*
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Association between the polymorphism of aldosterone synthase gene promoter-344T/C and preeclampsia in Qinghai Province

  • LI Wen-jia1 WANG Ru1 DUAN Qian1 LI Chang-xing1 LI Hong-rong2 LI Jian-hua1*
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摘要

目的 探讨青海省汉族孕妇子痫前期(PE)与醛固酮合成酶基因(CYP11B2)启动子区单核苷酸多态性的关系。   方法  选择青海省PE患者149例,正常妊娠对照组155 例,应用聚合酶链反应-限制性内切酶片段长度多态性 (PCR-RFLP) 方法,分析PE组和对照组CYP11B2-344T/C多态性分型并测序验证。   结果  PE组基因型频率TT型、CT型及CC型分别为43.0%、45.6%和11.4%,对照组分别为51.0%、45.1%和3.9%。PE组和对照组醛固酮合酶基因-344T/C位点等位基因T和C频率分布具有差异性(P<0.05),PE组C等位基因频率高于对照组(χ2=4.354,P<0.05, OR=0.691, 95% CI=0.49~0.98)。   结论  CYP11B2-344T/C多态性与青海省子痫前期有关,C等位基因可能是子痫前期的易感基因。

Abstract

Objective  To investigate the relationship between preeclampsia (PE) and polymorphism of aldosterone synthase gene (CYP11B2) promoter region-344T/C in Qinghai Province.    Methods  A total of 120 PE subjects and 155 normal pregnancy subjects were studied. The genotype of CYP11B2 was analyzed by polymerase chain reaction fragment length polymorphism (PCR-RFLP).The mutation was confirmed by sequencing.    Results  The frequencies of CYP11B2 TT, CT and CC genotype in the PE group were 43.0%, 45.6%, and 11.4%, and in the control group were 51.0%, 45.1%, and 3.9%, respectively. There was difference in frequency distribution of CYP11B2 genotype between the PE and control groups.The frequency of C allele in the PE group was higher than the control group(χ2=4.354,P<0.05, OR=0.691, 95% CI=0.49-0.98).    Conclusion  The CYP11B2-344T/C polymorphism is related to preeclampsia in Qinghai Province, and the C allele may be a susceptibility gene of preeclampsia.

关键词

青海 / 醛固酮合酶 / 子痫前期 / 基因多态性 / 限制性片段长度多态性聚合酶链反应 / 孕妇

Key words

Qinghai / Aldosterone synthase / Preeclampsia / Gene polymorphism / Restriction fragment length polymorphism polymerase chain reaction / Pregnant woman

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李文佳 王茹 段倩 李长兴 李红荣 李建华. 醛固酮合成酶基因启动子-344T/C 多态性与青海省汉族孕妇子痫前期的相关性[J]. 解剖学报. 2021, 52(2): 306-310 https://doi.org/10.16098/j.issn.0529-1356.2021.02.023
LI Wen-jia WANG Ru DUAN Qian LI Chang-xing LI Hong-rong LI Jian-hua. Association between the polymorphism of aldosterone synthase gene promoter-344T/C and preeclampsia in Qinghai Province[J]. Acta Anatomica Sinica. 2021, 52(2): 306-310 https://doi.org/10.16098/j.issn.0529-1356.2021.02.023
中图分类号: R3   

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基金

青藏高原人类遗传资源样本库实验平台建设

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