摘要
目的探讨新疆地区汉族、维吾尔族及哈萨克族孕妇维生素D受体(VDR)基因多态性与子痫前期(PE)风险的相关性。方法选取2017年6月至2019年6月于新疆医科大学第一附属医院行产前检查并确诊PE的新疆地区汉族、维吾尔族及哈萨克族124例患者纳入PE组,按民族分为汉族PE组(n=41)、维吾尔族PE组(n=42)及哈萨克族PE组(n=41);选取同期行产前检查的三民族127名健康孕妇纳入健康组,按民族分为汉族健康组(n=42)、维吾尔族健康组(n=44)和哈萨克族健康组(n=41)。抽取样本全血提取外周血单核细胞(PBMC)中的DNA,通过和基因测序对VDR的单核苷酸多态性(SNP)位点FokI(A>G,r2228570)进行基因型及等位基因的分型,评估各组间该位点的基因型分布及其与PE的相关性。结果PE组各民族FokI基因GG型占比及其等位基因G频率均显著高于同民族健康组(P<0.05)。汉族健康组FokI基因GG型占比及其等位基因G频率显著低于维吾尔族及哈萨克族健康组(P<0.05)。汉族PE组FokI基因GG型占比及其等位基因G频率低于维吾尔族PE组及哈萨克族PE组,维吾尔族PE组该等位基因低于哈萨克族PE组(P<0.05)。三民族健康组及PE组FokI位点GG分型的甘油三酯(TG)及肌肝(Cr)水平均显著高于AG及AA分型(P<0.05)。汉族健康组及PE组FokI位点GG分型的TG及Cr水平分别低于维吾尔族及哈萨克族健康组及PE 组同型患者( P < 0. 05) 。结论VDR 中FokI SNP 表达为GG 型与新疆地区汉族、维吾尔族及哈萨克族孕妇发生PE 具有相关性,但其等位基因G 在其中的作用及具体影响机制还有待进一步研究确定。
Objective To explore the correlation between vitamin D receptor(VDR) gene polymorphisms and preeclampsia(PE) risk in pregnant women of Han, Uygur and Kazakh ethnic groups in Xinjiang. Methods 124 cases of Han, Uygur and Kazakh patients in Xinjiang from prenatal examination and confirmed PE in the First Affiliated Hospital of Xinjiang Medical University from June 2017 to June 2019 were selected. According to ethnic groups, they were divided into Han PE group(n=41), Uygur PE group(n=42) and Kazakh PE group(n=41). At the same time, 127 healthy pregnant women of the three ethnic groups who underwent prenatal examination were divided into Han health group(n=42), Uygur health group(n=44) and Kazakh health group(n=41). Sample whole blood to extract DNA from peripheral blood mononuclear cells(PBMC), and perform genotyping and alleles at the single nucleotide polymorphism(SNP) site FokI(A> G, r2228570) of VDR through gene sequencing Genotyping. Assess the genotype distribution of this locus among the groups and its correlation with PE. Results The proportion of FokI genotype GG and the frequency of allele G in all patients in the PE group were significantly higher than those in the healthy group(P<0.05). The proportion of FokI genotype GG and its allele G frequency in Han healthy group were significantly lower than those in Uygur and Kazakh healthy groups(P <0.05). The proportion of FokI genotype GG and the frequency of allele G in the PE group of Han ethnic group were lower than that of the Uygur PE group and the Kazakh PE group. The alleles of the Uygur PE group were lower than that of the Kazakh PE group(P<0.05). The TG and Cr typing of the FokI locus in the three groups of healthy and PE groups were significantly higher than the AG and AA typing(P <0.05). The TG and Cr values of the FokI locus GG subtype in the Han health group and the PE group were lower than those in the Uygur and Kazakh health groups and the PE group(P <0.05). Conclusions The expression of FokI SNP as GG in VDR is related to the occurrence of PE in Han, Uygur and Kazakh ethnic groups in Xinjiang, but the role of allele G in it and the specific influence mechanism need to be further determined.
作者
李祥雯
李晶
朱启英
LI Xiangwen;LI Jing;ZHU Qiying(Department of Obstetrics,the First Affiliated Hospital of Xinjiang Medical University,Urumqi 830054,Xinjiang,China)
出处
《中国性科学》
2021年第8期51-55,共5页
Chinese Journal of Human Sexuality
基金
新疆维吾尔自治区自然科学基金面上项目(2019D01C317)。
关键词
新疆地区
汉族
维吾尔族
哈萨克族
维生素D受体
子痫
Xinjiang
Han ethnic group
Uygur ethnic group
Kazakh ethnic group
Vitamin D receptor
Eclampsia
