α-内收蛋白Gly460Trp多态性与家族性混合性高脂血症患者收缩压之间的关联。

Association between the alpha-adducin Gly460Trp polymorphism and systolic blood pressure in familial combined hyperlipidemia.

作者信息

Beeks E, Janssen R G, Kroon A A, Keulen E T, Geurts J M, de Leeuw P W, de Bruin T W

机构信息

Department of Internal Medicine, Cardiovascular Research Institute Maastricht, The Netherlands.

出版信息

Am J Hypertens. 2001 Dec;14(12):1185-90. doi: 10.1016/s0895-7061(01)02216-6.

DOI:10.1016/s0895-7061(01)02216-6

PMID:11775124

Abstract

BACKGROUND

In a genome scan for familial combined hyperlipidemia (FCHL), a locus contributing to systolic blood pressure (SBP) has been identified on chromosome 4, containing the a-adducin gene (ADD1). In previous studies, an association has been found between the alpha-adducin Gly460Trp polymorphism and salt-sensitive hypertension. In this study, we investigated the association between the a-adducin Gly460Trp polymorphism and blood pressure in FCHL patients.

METHODS

A total of 79 unrelated patients with FCHL and 121 unrelated controls (spouses) were recruited for the study. Blood pressure was measured in a standardized fashion, with the subject in sitting position after 10 min of rest. The alpha-adducin Gly460Trp polymorphism was detected by mutagenically separated polymerase chain reaction.

RESULTS

The genotype frequencies of both FCHL patients and controls were in Hardy-Weinberg equilibrium. The alpha-adducin Gly460Trp polymorphism showed a significant association with FCHL, the number of subjects carrying a 460Trp allele was significantly higher in patients compared with controls (53% v 33%, chi2 = 8.0, P = .018). In FCHL patients carrying at least one 460Trp allele, SBP was significantly higher compared with patients homozygous for the 460Gly allele (140 mm Hg and 130 mm Hg respectively, P = .015).

CONCLUSIONS

This study shows that the 460Trp allele is associated with FCHL. Furthermore, SBP is increased in patients carrying the 460Trp allele.

摘要

背景

在一项针对家族性混合型高脂血症（FCHL）的全基因组扫描中，已在4号染色体上确定了一个与收缩压（SBP）相关的基因座，其中包含α-内收蛋白基因（ADD1）。在先前的研究中，已发现α-内收蛋白Gly460Trp多态性与盐敏感性高血压之间存在关联。在本研究中，我们调查了α-内收蛋白Gly460Trp多态性与FCHL患者血压之间的关联。

方法

共招募了79名无亲缘关系的FCHL患者和121名无亲缘关系的对照者（配偶）参与研究。以标准化方式测量血压，受试者休息10分钟后取坐姿。通过诱变分离聚合酶链反应检测α-内收蛋白Gly460Trp多态性。

结果

FCHL患者和对照者的基因型频率均处于Hardy-Weinberg平衡。α-内收蛋白Gly460Trp多态性与FCHL显著相关，与对照者相比，携带460Trp等位基因的患者数量显著更高（53%对33%，χ2 = 8.0，P = 0.018）。在携带至少一个460Trp等位基因的FCHL患者中，SBP显著高于460Gly等位基因纯合的患者（分别为140 mmHg和130 mmHg，P = 0.015）。