The E670G SNP in the <it>PCSK9 </it>gene is associated with polygenic hypercholesterolemia in men but not in women

• Main Authors: Beil Frank U, Evans David
• Format: Article
• Language: English
• Published: BMC 2006-07-01
• Series: BMC Medical Genetics
• Online Access: http://www.biomedcentral.com/1471-2350/7/66

<p>Abstract</p> <p>Background</p> <p>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).</p> <p>Methods</p> <p>The incidence of the E670G SNP was determined in 506 patients attending the lipid clinic, University Hospital, Hamburg.</p> <p>Results</p> <p>The frequency in men with polygenic hypercholesterolemia, 0.11 was significantly higher than in men with LDL<50^thpercentile, 0.03, p = 0.01. In women there was no difference in the allele frequencies between the two groups.</p> <p>Conclusion</p> <p>In a European population the E670G SNP in the PCSK9 gene is associated with increased LDL in men but not in women.</p>