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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
; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
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
2016-04-01 12:17:26
date last changed
2025-04-03 18:41:53
@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}},
  keywords     = {{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}},
  doi          = {{10.1159/000073986}},
  volume       = {{55}},
  year         = {{2003}},
}