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Original Paper

Polymorphisms of the HDL Receptor Gene Associated with HDL Cholesterol Levels in Diabetic Kindred from Three Populations

McCarthy J.J.a · Lewitzky S.b · Reeves C.b · Permutt A.c · Glaser B.d · Groop L.C.e · Lehner T.f · Meyer J.M.b

Author affiliations

aSan Diego State University, San Diego, Calif., bMillennium Pharmaceuticals, Inc., Cambridge, Mass., cDivision of Metabolism, Endocrinology and Diabetes, Washington University Medical School, St.Louis,Mo.,USA; dEndocrinology and Metabolism Service, Internal Medicine Department, Hebrew University, Hadassah Medical Center, Jerusalem, Israel; eDepartment of Endocrinology, Wallenberg Laboratory, Malmö University Hospital, University of Lund, Malmö, Sweden; fRockefeller University, New York, N.Y., USA

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Hum Hered 2003;55:163–170

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: April 21, 2003
Accepted: June 09, 2003
Published online: October 22, 2003
Issue release date: October 2003

Number of Print Pages: 8
Number of Figures: 0
Number of Tables: 9

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: https://www.karger.com/HHE

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.

© 2003 S. Karger AG, Basel


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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: April 21, 2003
Accepted: June 09, 2003
Published online: October 22, 2003
Issue release date: October 2003

Number of Print Pages: 8
Number of Figures: 0
Number of Tables: 9

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: https://www.karger.com/HHE


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