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A novel block at chromosome 12q24.1 is associated with coronary artery disease in Han Chinese populations

Objective The aim of this study was to refine the chromosomal region 12q24.1 associated with coronary artery disease in Han Chinese populations. Methods and results Twenty tagging single nucleotide polymorphisms covering 1.2 Mb of chromosomal 12q24.1 were selected and genotyped in three geographically isolated case–control populations consisting of 7076 coronary artery disease (CAD) patients and non-CAD participants. In addition to replication of the previous block (block 1), we identified a novel block (block 2) associated with CAD. In a combined analysis, the odds ratio (95% confidence interval, permuted P value) were 0.79 (0.72–0.86, 8.358×10−8) and 1.24 (1.13–1.36, 2.576×10−6) for haplotypes ATGGG and GCACA in block 1 and 1.22 (1.14–1.30, 6.484×10−9) and 0.82 (0.77–0.88, 6.484×10−9) for haplotypes GA and AG in block 2, respectively. Protective alleles of two index single nucleotide polymorphisms decreased the expression of NAA25 (P=0.034), but did not alter the expression of other genes within block 2. Conclusion We identified a novel block associated with CAD at chromosomal 12q24.