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Leif Groop

Leif Groop

Principal investigator

Leif Groop

Polymorphisms of the HDL receptor gene associated with HDL cholesterol levels in diabetic kindred from three populations

Author

  • JJ McCarthy
  • S Lewitzky
  • C Reeves
  • A Permutt
  • B Glaser
  • Leif Groop
  • T Lehner
  • JM Meyer

Summary, in English

Objective: We examined polymorphisms in the HDL receptor, SR-BI, for association with plasma HDL cholesterol levels. Methods: Study subjects, including 847 women and 725 men, were from families originally ascertained for type 2 diabetes from Finland, Sweden and Israel. Four common polymorphisms were examined in linear regression analysis: an exon 1 missense (EX1), exon 8 silent (EX8), intron 5 (IVS5) and intron 10 (IVS10) variants. Results: Genotype combinations for the three polymorphisms in linkage disequilibrium (IVS5, EX8 and IVS10) were found to be associated with HDL-C among women from the Israeli (p = 0.01) and Swedish (p = 0.06) populations. In Finnish women, the association was only apparent after taking into account effect modification by triglyceride levels (p = 0.04). One specific pattern of genotypes, denoted by presence of the IVS5_T and EX8_C alleles, and absence of the IVS10_G allele, was consistently associated with the lowest mean levels of HDL-C in women from all three populations. These same associations were not found in men. Conclusions: Polymorphic variation of the SR-BI gene may influence HDL-C levels and act in a sex-dependent manner. Copyright (C) 2003 S. Karger AG, Basel.

Department/s

  • Genomics, Diabetes and Endocrinology

Publishing year

2003

Language

English

Pages

163-170

Publication/Series

Human Heredity

Volume

55

Issue

4

Document type

Journal article

Publisher

Karger

Topic

  • Medical Genetics

Keywords

  • epidemiologic studies
  • receptors
  • haplotypes
  • genotypes
  • genes
  • polymorphism
  • diabetes mellitus
  • triglycerides
  • HDL
  • lipoproteins

Status

Published

Research group

  • Genomics, Diabetes and Endocrinology

ISBN/ISSN/Other

  • ISSN: 1423-0062