Association between the alpha-adducin Gly460Trp polymorphism and systolic blood pressure in familial combined hyperlipidemia.
Association between the alpha-adducin Gly460Trp polymorphism and systolic blood pressure in familial combined hyperlipidemia.
复制标题
α-内收蛋白 Gly460Trp 多态性与家族性混合性高脂血症中收缩压的关联。
DOI：
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发表时间：
2001
影响因子：
3.2
通讯作者：
T. D. de Bruin
中科院分区：
文献类型：
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作者：
E. Beeks;R. Janssen;A. Kroon;E. Keulen;J. Geurts;P. D. de Leeuw;T. D. de Bruin
背景
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.