title: 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.affiliation: Department of Internal Medicine, Cardiovascular Research Institute Maastricht, The Netherlands.
authors.forename: E
authors.initials: E
authors.lastname: Beeks
authors.forename: R G
authors.initials: RG
authors.lastname: Janssen
authors.forename: A A
authors.initials: AA
authors.lastname: Kroon
authors.forename: E T
authors.initials: ET
authors.lastname: Keulen
authors.forename: J M
authors.initials: JM
authors.lastname: Geurts
authors.forename: P W
authors.initials: PW
authors.lastname: de Leeuw
authors.forename: T W
authors.initials: TW
authors.lastname: de Bruin
mesh_terms: D000328:Adult; D001794:Blood Pressure / Q000235:genetics*; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D006950:Hyperlipidemia, Familial Combined / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D000099291:Adducins
chemical_list: D002148:Calmodulin-Binding Proteins; D005819:Genetic Markers; D000099291:Adducins