Background Dyslipidaemia, a key risk factor for cardiovascular disease (CVD), is strongly influenced by genetic factors.

Objective To identify genetic factors affecting blood lipid concentrations and CVD risk factors in the Korean population by a candidate gene association analysis.

Methods 21 single nucleotide polymorphisms (SNPs) that have been reported as associated with lipid concentrations in people of European ancestry were selected and their associations with CVD risk factors in Korean populations assessed. Genotype data from 7616 subjects without diabetes or lipid-lowering drugs were obtained from the Korean Association Resource (KARE) project.

Results After adjustment for age and gender, five SNPs were identified that were associated with high-density lipoprotein-cholesterol (HDL-C; rs4420638: p=2.09×10^-7), 11 SNPs with low-density lipoprotein-cholesterol (LDL-C; rs12654264: p=1.29×10^-8) and eight SNPs with triglycerides (TG; rs4420638: p=1.80×10^-6). Through analysis of multiple associations with lipid traits, after adjustment for age, gender, body mass index, smoking, alcohol consumption and hypertension, five SNPs (rs693, rs17321515, rs174547, rs688, rs4420638) were identified that were strongly associated with at least two of the following: HDL-C, LDL-C and TG. Of these, rs693, which lies in the APOB gene, was also significantly associated with the homoeostasis model assessment for insulin resistance (p=6.68×10^-6) and γ-glutamyl transpeptidase (p=2.34×10^-6), and rs174547, which lies in the FADS1 gene and was significantly associated with fasting plasma glucose (p=1.48×10^-6).

Conclusion Several SNPs associated with lipid traits and CVD risk factors were identified. These findings may form the basis for further investigations to identify the causative polymorphisms in dyslipidaemia and CVD.