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

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.

• Authors: E Beeks, R G Janssen, A A Kroon, E T Keulen, J M Geurts, P W de Leeuw, T W de Bruin
• Journal: American journal of hypertension (Am J Hypertens) Vol. 14 Issue 12 Pg. 1185-90 (Dec 2001) ISSN: 0895-7061 [Print] United States
• PMID: 11775124 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Calmodulin-Binding Proteins
• Genetic Markers
• adducin

Topics

• Adult
• Blood Pressure (genetics)
• Calmodulin-Binding Proteins (genetics)
• Female
• Gene Frequency
• Genetic Markers
• Genotype
• Humans
• Hyperlipidemia, Familial Combined (genetics)
• Male
• Middle Aged
• Polymorphism, Single Nucleotide