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

Heidi E Lilja1, Elina Suviolahti, Aino Soro-Paavonen

  • 1Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland.

Journal of Lipid Research
|July 20, 2004
PubMed

Insights

Genetic analysis of Finnish families revealed shared chromosomal regions linked to low HDL-cholesterol and familial combined hyperlipidemia. The study identified specific loci on chromosomes 10q11, 2q31, and 20q13.32 associated with lipid traits.

Area of Science:

  • Genetics
  • Cardiovascular Disease Research
  • Metabolic Disorders

Background:

  • Familial combined hyperlipidemia (FCHL) and low HDL-cholesterol (HDL-C) are common inherited lipid disorders. Both conditions increase the risk of premature coronary heart disease (CHD). Phenotypic similarities suggest shared genetic underpinnings.
  • Previous genome scans identified three shared chromosomal regions (8q23.1, 16q23.3, 20q13.32) for low HDL-C and FCHL. Other loci for premature CHD (2q31, Xq24) and high triglycerides (TGs) (10q11) were also previously identified.

Purpose of the Study:

  • To investigate shared chromosomal regions for familial dyslipidemias and premature coronary heart disease.
  • To analyze linkage and association for lipid traits (HDL-C, TGs) in Finnish families with low HDL-C or FCHL.

Main Methods:

  • Analysis of 67 microsatellite markers in 1,109 individuals from 92 families.
  • Utilized both qualitative and quantitative lipid phenotypes for linkage and association analyses.
  • Examined previously identified loci for CHD and TGs, alongside shared regions for low HDL-C and FCHL.

Main Results:

  • Evidence for linkage (LOD score 3.2) on chromosome 10q11 for quantitative HDL-C.
  • Significant association (P = 0.0006) at marker D10S546 on 10q11 for quantitative TGs.
  • Association (P = 0.008) at D10S546 for a combined trait of HDL-C and TGs.
  • Suggestive evidence for linkage for HDL-C on 2q31 and for TGs on 20q13.32.

Conclusions:

  • Chromosome 10q11, previously linked to TGs, BMI, and obesity, harbors loci associated with quantitative TGs and a combined HDL-C/TG trait.
  • Chromosomes 10q11, 2q31, and 20q13.32 are implicated in the genetic etiology of HDL-C and TG levels in Finnish families with dyslipidemias.
  • These findings support the hypothesis of overlapping molecular pathogenesis in familial dyslipidemias predisposing to CHD.

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