The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in womenReportar como inadecuado




The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

BMC Medical Genetics

, 7:66

First Online: 31 July 2006Received: 16 May 2006Accepted: 31 July 2006

Abstract

BackgroundCommon 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.

MethodsThe incidence of the E670G SNP was determined in 506 patients attending the lipid clinic, University Hospital, Hamburg.

ResultsThe frequency in men with polygenic hypercholesterolemia, 0.11 was significantly higher than in men with LDL<50 percentile, 0.03, p = 0.01. In women there was no difference in the allele frequencies between the two groups.

ConclusionIn a European population the E670G SNP in the PCSK9 gene is associated with increased LDL in men but not in women.

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2350-7-66 contains supplementary material, which is available to authorized users.

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Autor: David Evans - Frank U Beil

Fuente: https://link.springer.com/



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