gms | German Medical Science

Kongress Medizin und Gesellschaft 2007

17. bis 21.09.2007, Augsburg

Genome-wide association study on HDL cholesterol concentrations in 1644 population-based individuals of the KORA study

Meeting Abstract

  • Iris M Heid - GSF-Institut für Epidemiologie, Neuherberg
  • Eva Boes - Division of Genetic Epidemiology, Innsbruck Medical University, Innsbruck
  • Christian Gieger - GSF-Institut für Epidemiologie, Neuherberg
  • Barbara Kolleritz - Division of Genetic Epidemiology, Innsbruck Medical University, Innsbruck
  • Martina Müller - GSF-Institut für Epidemiologie, Neuherberg
  • Markus Haak - Division of Genetic Epidemiology, Innsbruck Medical University, Innsbruck
  • Norman Klopp - Ludwig-Maximilians-Universität München, München
  • Thomas Meitinger - GSF-Institut für Humangenetik, Neuherberg
  • H.-Erich Wichmann - GSF-Institut für Epidemiologie, Neuherberg
  • Florian Kronenberg - Division of Genetic Epidemiology, Innsbruck Medical University, Innsbruck

Kongress Medizin und Gesellschaft 2007. Augsburg, 17.-21.09.2007. Düsseldorf: German Medical Science GMS Publishing House; 2007. Doc07gmds142

Die elektronische Version dieses Artikels ist vollständig und ist verfügbar unter:

Veröffentlicht: 6. September 2007

© 2007 Heid et al.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen ( Er darf vervielfältigt, verbreitet und öffentlich zugänglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.



High density lipoprotein cholesterol (HDL-C) is a risk factor for atherosclerosis. It has antiatherogenic properties and is involved in the reverse transport of cholesterol from cells of the arterial wall to the liver and steroidogenic organs where it is metabolized. There is strong evidence that HDL-C is under significant genetic control. Several but not all genes involved in the regulation of HDL-C plasma concentrations were identified in the past. To identify yet unknown genes influencing HDL-C levels, we performed a genome-wide association study in 1644 individuals from the population-based KORA/MONICA Augsburg. These participants were genotyped using the 500K SNP array (GeneChip Human Mapping 500K set from Affymetrix). HDL-C was analyzed as a continuous quantitative trait using linear regression analysis assuming an additive or a recessive model and with various adjustement of the data. Our systematic review of the literature identified 10 genes for which at least two previous association studies reported significant associations. Four of these genes were identified in this whole genome association studies. Furthermore, we identified 8 and 45 SNPs with p-values <10-5 for the additive and recessive model, respectively, located in genes as of yet undescribed for HDL-C. Additional 39 and 60 SNPs showed p-values between 10-5 and 10-4 for the two models. In a second step, the most promising 13 SNPs, which were not located in the area of the four "re-discovered" candidate genes, were genotyped in further 4000 population-based subjects from the KORA Survey S4. One of this SNPs showed again a clear association with HDL-C levels and will be followed in replication studies. This GWA study identified four out of ten well known genes for HDL-C levels which is a proof of principle, and provided some evidence for a further gene related to HDL-C levels, which has to be verified in further replication studies.