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

McCarthy, JJ; Lewitzky, S; Reeves, C; Permutt, A; Glaser, B; Groop, Leif LU ; Lehner, T and Meyer, JM (2003) In Human Heredity 55(4). p.163-170
Abstract
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
epidemiologic studies, receptors, haplotypes, genotypes, genes, polymorphism, diabetes mellitus, triglycerides, HDL, lipoproteins
in
Human Heredity
volume
55
issue
4
pages
163 - 170
publisher
Karger
external identifiers
  • wos:000186325900002
  • pmid:14566094
  • scopus:0142156654
ISSN
1423-0062
DOI
10.1159/000073986
language
English
LU publication?
yes
id
e5696da4-3768-451b-ae78-a40583fbff6a (old id 296490)
date added to LUP
2007-09-18 11:48:25
date last changed
2018-05-29 11:37:49
@article{e5696da4-3768-451b-ae78-a40583fbff6a,
  abstract     = {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.},
  author       = {McCarthy, JJ and Lewitzky, S and Reeves, C and Permutt, A and Glaser, B and Groop, Leif and Lehner, T and Meyer, JM},
  issn         = {1423-0062},
  keyword      = {epidemiologic studies,receptors,haplotypes,genotypes,genes,polymorphism,diabetes mellitus,triglycerides,HDL,lipoproteins},
  language     = {eng},
  number       = {4},
  pages        = {163--170},
  publisher    = {Karger},
  series       = {Human Heredity},
  title        = {Polymorphisms of the HDL receptor gene associated with HDL cholesterol levels in diabetic kindred from three populations},
  url          = {http://dx.doi.org/10.1159/000073986},
  volume       = {55},
  year         = {2003},
}