1. ¹Department of Internal Medicine, Cardiovascular Research Institute Maastricht, Maastricht, The Netherlands
2. ²Cluster of Genetics and Cell Biology, Department of Population Genetics, Maastricht University and University Hospital Maastricht, Maastricht, The Netherlands

Correspondence: T.W.A. de Bruin, University Hospital Maastricht, Department of Internal Medicine, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands. E-mail: p.deleeuw@intmed.unimaas.nl

Received 12 February 2001; Accepted 11 June 2001.

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 -adducin gene (ADD1). In previous studies, an association has been found between the -adducin Gly460Trp polymorphism and salt-sensitive hypertension. In this study, we investigated the association between the -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 -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 -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%, ² = 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.