Concordant association of lipid gene variation with a combined HDL/LDL-cholesterol phenotype in two European populations


  • A. Bauerfeind
  • H. Knoblauch
  • M.C. Costanza
  • T. Luganskaja
  • M.R. Toliat
  • P. Nuernberg
  • F.C. Luft
  • J.G. Reich
  • A. Morabia


  • Human Heredity


  • Hum Hered 61 (3): 123-131


  • OBJECTIVE: SNP/phenotype associations are difficult to validate. This comparative study demonstrates significant contribution of candidate genes to the variation of a complex cholesterol phenotype, measured in two general populations by a gene-based approach. METHODS: Independent samples of normolipidemic subjects from two Caucasian populations (371 Swiss and 157 Germans) were selected for a case-control-study (high LDL/low HDL versus low LDL/high HDL) with SNP genotypes as independent factors. We examined locus-specific common SNPs that densely cover the genomic regions of 10 lipid genes. RESULTS: Genotype effects were concordant in both ethnic samples, showing that APOE, ABCA1, CETP, and to a lesser degree LDLR, LIPC, and PLTP explained a substantial part of the genetic variation, whereas LPL was associated in only one sample. APOA1, LCAT, and SRB1 exerted no measurable influence. CONCLUSION: This comparison showed that sets of common SNPs representing candidate regions reproducibly validate significant linkage disequilibrium association with a complex metabolic trait. Copyright (c) 2006 S. Karger AG, Basel.