Genome Scans Provide Evidence for low-HDL-C Loci on Chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish Families

Am J Hum Genet. 2002 May;70(5):1333-40. doi: 10.1086/339988. Epub 2002 Mar 12.


We performed a genomewide scan for genes that predispose to low serum HDL cholesterol (HDL-C) in 25 well-defined Finnish families that were ascertained for familial low HDL-C and premature coronary heart disease. The potential loci for low HDL-C that were identified initially were tested in an independent sample group of 29 Finnish families that were ascertained for familial combined hyperlipidemia (FCHL), expressing low HDL-C as one component trait. The data from the previous genome scan were also reanalyzed for this trait. We found evidence for linkage between the low-HDL-C trait and three loci, in a pooled data analysis of families with low HDL-C and FCHL. The strongest statistical evidence was obtained at a locus on chromosome 8q23, with a two-point LOD score of 4.7 under a recessive mode of inheritance and a multipoint LOD score of 3.3. Evidence for linkage also emerged for loci on chromosomes 16q24.1-24.2 and 20q13.11, the latter representing a recently characterized region for type 2 diabetes. Besides these three loci, loci on chromosomes 2p and 3p showed linkage in the families with low HDL-C and a locus on 2ptel in the families with FCHL.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Body Mass Index
  • Cholesterol, HDL / blood*
  • Cholesterol, HDL / genetics*
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 16 / genetics*
  • Chromosomes, Human, Pair 2 / genetics
  • Chromosomes, Human, Pair 20 / genetics*
  • Chromosomes, Human, Pair 3 / genetics
  • Chromosomes, Human, Pair 8 / genetics*
  • Diabetes Mellitus, Type 2 / genetics
  • Female
  • Finland
  • Genes, Recessive / genetics
  • Genome, Human*
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Phenotype


  • Cholesterol, HDL

Associated data

  • OMIM/107670
  • OMIM/205400
  • OMIM/600046