| Summary: | <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<sup>th </sup>percentile, 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>
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