A promoter polymorphism -2122C>T of CHI3L1 is associated with serum low density lipoprotein cholesterol level in Korean subjects.

Objectives: This study assessed the effects of 10 tagging single nucleotide polymorphisms (SNPs) of the CHI3L1 gene on serum LDL cholesterol levels in 290 Korean subjects.

Design And Methods: Genotyping analyses of SNPs were conducted by TaqMan® method. The effects of the promoter SNP on mRNA expression and nuclear factor binding were measured by real-time PCR and electrophoretic mobility shift assay, respectively.

Results: Among 10 tagging SNPs, -2122C>T SNP (rs946261) in the promoter region was significantly associated with serum LDL cholesterol level (P=0.005). The T allele of -2122C>T was associated with significantly increased mRNA expressions in peripheral blood cells of the subjects, and also increased a nuclear factor binding measured by an electrophoretic mobility shift assay.

Conclusions: -2122C>T of CHI3L1, a promoter SNP which affects the mRNA expression and nuclear factor binding, is significantly associated with serum LDL cholesterol levels in Korean subjects.