Association of single nucleotide polymorphism rs599839 on chromosome 1p13.3 with premature coronary heart disease in a Chinese Han population / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the association of single nucleotide polymorphism (SNP) rs599839 on chromosome 1p13.3 with premature coronary heart disease.</p><p><b>METHODS</b>A case-control association study of 303 unrelated premature coronary heart disease patients and 312 normal controls from a Chinese Han population was performed. Genotype was determined by polymerase chain reaction-restriction fragment length polymorphism for SNP rs599839 on Chromosome 1p13.3.</p><p><b>RESULTS</b>The frequencies of the G allele were 5.0% and 9.1% in the premature coronary heart disease group and control group respectively (P= 0.004). The presence of the G allele was associated with significantly lower concentration of the low density lipoprotein-cholesterol (LDL-C) in both groups.</p><p><b>CONCLUSION</b>The present findings suggest that the genetic polymorphism in rs599839 may be associated with the development of premature coronary heart disease in Chinese Han population, and the polymorphism may have some influence on serum LDL-C level in this population.</p>