Pressure in Familial Combined Hyperlipidemia

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 -ad-ducin Gly460Trp polymorphism and salt-sensitive hyper-tension. 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 pa-tients and controls were in Hardy-Weinberg equilibrium. The -adducin Gly460Trp polymorphism showed a sig-nificant association with FCHL, the number of subjects carrying a 460Trp allele was significantly higher in pa-tients 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 pa-tients 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. Am J Hyperten