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Haplotypes of the ApoA-I/C-III/A-IV gene cluster and familial combined hyperlipidemia

E Tahvanainen1, P Pajukanta, K Porkka

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

Arteriosclerosis, Thrombosis, and Vascular Biology
|November 13, 1998
PubMed

Insights

Familial combined hyperlipidemia (FCHL) is common, but its genetic cause remains unknown. This study found no specific gene variations linked to FCHL in Finnish families, despite associations in other populations.

Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Lipid Metabolism

Background:

  • Familial combined hyperlipidemia (FCHL) is a prevalent genetic disorder.
  • FCHL is strongly linked to premature coronary heart disease.
  • The genetic underpinnings of FCHL are not fully understood.

Purpose of the Study:

  • To investigate the association of apoA-I/C-III/A-IV gene cluster haplotypes with FCHL in the Finnish population.
  • To determine if previously identified FCHL susceptibility haplotypes are present in Finnish FCHL families.

Main Methods:

  • Haplotype analysis
  • Linkage analysis
  • Sib-pair analysis
  • Linkage disequilibrium analysis
  • Genotyping of MspI polymorphisms in 600 Finnish FCHL patients and relatives from 28 families.

Main Results:

  • MspI polymorphisms showed association with total serum cholesterol and apoB levels in the general Finnish population (spouses).
  • No significant evidence was found for the direct involvement of the studied loci or specific haplotypes in FCHL expression within Finnish FCHL families.
  • Previous findings on FCHL susceptibility haplotypes were not replicated in this Finnish cohort.

Conclusions:

  • The apoA-I/C-III/A-IV gene cluster and its specific haplotypes do not appear to be major determinants of FCHL in the Finnish population.
  • Further research is needed to identify the genetic factors contributing to FCHL.
  • The association of MspI polymorphisms with lipid levels in the general population warrants further investigation.

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