The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women.

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Abstract

BACKGROUND: Common genetic variants in the PCSK9 gene have been reported to be associated with both elevated and exceptionally low LDL levels. The association of a common haplotype, encompassing the E670G single nucleotide polymorphism, with LDL levels reported by Chen et al (J Am Coll Cardiol 2005; 45: 1644) was not confirmed by Kotowski et al (Am J Hum Genet 2006; 78:410-422). METHODS: The incidence of the E670G SNP was determined in 506 patients attending the lipid clinic, University Hospital, Hamburg. RESULTS: The frequency in men with polygenic hypercholesterolemia, 0.11 was significantly higher than in men with LDL

Bibliographical data

Original languageGerman
ISSN1471-2350
DOIs
Publication statusPublished - 2006
pubmed 16875509