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维生素D受体(VDR)基因FokI多态性对原发性高血压的风险。

Risk conferred by FokI polymorphism of vitamin D receptor (VDR) gene for essential hypertension.

作者信息

Swapna N, Vamsi U Mohana, Usha G, Padma T

机构信息

Department of Genetics, Osmania University, Hyderabad, India.

出版信息

Indian J Hum Genet. 2011 Sep;17(3):201-6. doi: 10.4103/0971-6866.92104.

Abstract

BACKGROUND

The vitamin D receptor (VDR) gene serves as a good candidate gene for susceptibility to several diseases. The gene has a critical role in regulating the renin-angiotensin system (RAS) influencing the regulation of blood pressure. Hence determining the association of VDR polymorphisms with essential hypertension is expected to help in the evaluation of risk for the condition.

AIM

The aim of this study was to evaluate association between VDRFok I polymorphism and genetic susceptibility to essential hypertension.

MATERIALS AND METHODS

Two hundred and eighty clinically diagnosed hypertensive patients and 200 normotensive healthy controls were analyzed for Fok I (T/C) [rs2228570] polymorphism by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. Genotype distribution and allele frequencies in patients and controls, and odds ratios (ORs) were calculated to predict the risk for developing hypertension by the individuals of different genotypes.

RESULTS

The genotype distribution and allele frequencies of Fok I (T/C) [rs2228570] VDR polymorphism differed significantly between patients and controls (χ(2) of 18.0; 2 degrees of freedom; P = 0.000). FF genotype and allele F were at significantly greater risk for developing hypertension and the risk was elevated for both the sexes, cases with positive family history and habit of smoking.

CONCLUSIONS

Our data suggest that VDR gene Fok I polymorphism is associated with the risk of developing essential hypertension.

摘要

背景

维生素D受体(VDR)基因是多种疾病易感性的良好候选基因。该基因在调节肾素 - 血管紧张素系统(RAS)中起关键作用,影响血压调节。因此,确定VDR基因多态性与原发性高血压的关联有望有助于评估该疾病的风险。

目的

本研究旨在评估VDR Fok I基因多态性与原发性高血压遗传易感性之间的关联。

材料与方法

采用聚合酶链反应和限制性片段长度多态性(PCR - RFLP)分析,对280例临床诊断为高血压的患者和200例血压正常的健康对照进行Fok I(T/C)[rs2228570]基因多态性分析。计算患者和对照中的基因型分布、等位基因频率以及优势比(OR),以预测不同基因型个体患高血压的风险。

结果

患者和对照之间Fok I(T/C)[rs2228570] VDR基因多态性的基因型分布和等位基因频率存在显著差异(χ² = 18.0;自由度为2;P = 0.000)。FF基因型和F等位基因患高血压的风险显著更高,且在男女、有阳性家族史者和吸烟者中风险均升高。

结论

我们的数据表明,VDR基因Fok I多态性与原发性高血压的发病风险相关。

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