Locus for quantitative HDL-cholesterol on chromosome 10q in Finnish families with dyslipidemia

J Lipid Res. 2004 Oct;45(10):1876-84. doi: 10.1194/jlr.M400141-JLR200. Epub 2004 Jul 16.

Abstract

Decreased HDL-cholesterol (HDL-C) and familial combined hyperlipidemia (FCHL) are the two most common familial dyslipidemias predisposing to premature coronary heart disease (CHD). These dyslipidemias share many phenotypic features, suggesting a partially overlapping molecular pathogenesis. This was supported by our previous pooled data analysis of the genome scans for low HDL-C and FCHL, which identified three shared chromosomal regions for a qualitative HDL-C trait on 8q23.1, 16q23.3, and 20q13.32. This study further investigates these regions as well as two other loci we identified earlier for premature CHD on 2q31 and Xq24 and a locus for high serum triglycerides (TGs) on 10q11. We analyzed 67 microsatellite markers in an extended study sample of 1,109 individuals from 92 low HDL-C or FCHL families using both qualitative and quantitative lipid phenotypes. These analyses provided evidence for linkage (a logarithm of odds score of 3.2) on 10q11 using a quantitative HDL-C trait. Importantly, this region, previously linked to TGs, body mass index, and obesity, provided evidence for association for quantitative TGs (P = 0.0006) and for a combined trait of HDL-C and TGs (P = 0.008) with marker D10S546. Suggestive evidence for linkage also emerged for HDL-C on 2q31 and for TGs on 20q13.32. Finnish families ascertained for dyslipidemias thus suggest that 10q11, 2q31, and 20q13.32 harbor loci for HDL-C and TGs.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Cholesterol, HDL / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 10*
  • Chromosomes, Human, Pair 2
  • Chromosomes, Human, Pair 20
  • Family Health
  • Finland / epidemiology
  • Genetic Linkage
  • Humans
  • Hyperlipidemias / classification
  • Hyperlipidemias / etiology
  • Hyperlipidemias / genetics*
  • Microsatellite Repeats
  • Middle Aged
  • Molecular Epidemiology

Substances

  • Cholesterol, HDL