Background: We sought to examine if polymorphisms in the promoter region of YKL-40 gene (CHI3L1) are associated with serum YKL-40 levels and coronary artery disease (CAD) in Chinese patients.
Methods: Three single nucleotide polymorphisms (SNPs) (-329G>A, rs10399931; -247C>T, rs10399805; -131G>C, rs4950928) in the CHI3L1 promoter were determined in 213 consecutive patients with angiographically documented CAD (luminal diameter stenosis ≥50%) and 248 normal controls. Coronary cumulative obstruction score and number of diseased vessels represent the severity of CAD. Serum YKL-40 levels were assessed using an ELISA kit.
Results: Patients with CAD had remarkably higher serum YKL-40 levels compared to controls (p<0.001). There was no difference in the allele, genotype and haplotype distribution of these three SNPs between controls and CAD patients. The minor alleles of CHI3L1-329G>A and -131G>C were significantly associated with decreased serum YKL-40 levels in both controls (p = 0.001 and p<0.001, respectively) and CAD patients (p = 0.007 and p<0.001, respectively), whereas CHI3L1-247C>T had no appreciable effect. None of these genetic variants and haplotypes was associated with severity of angiographic CAD.
Conclusions: CHI3L1-329G>A and -131G>C polymorphisms are associated with serum YKL-40 levels, but not with the prevalence or severity of CAD.
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