ORIGINAL ARTICLESA novel block at chromosome 12q24.1 is associated with coronary artery disease in Han Chinese populationsJiang, Feng; Yan, Han; Wu, Chong; Song, Chun; Zhao, Bin; Li, Yang; Dong, Jie; Zheng, Gu-Yan; Jin, Li-Juan; Li, Xue-Qi; Li, Wei-Yang; Cai, Jun; Yang, Xin-Chun; Tian, Xiao-LiAuthor Information aDepartment of Cardiology, Beijing Chaoyang Hospital, Capital Medical University bDepartment of Human Population Genetics, Institute of Molecular Medicine, Peking University, Beijing cDepartment of Cardiology, The Second Affiliated Hospital of Harbin Medical University dDepartment of Cardiology, The Fourth Affiliated Hospital of Harbin Medical University, Harbin eDepartment of Cardiology, HongQi Hospital of Mudanjiang Medical University, Mudanjiang fDepartment of Human Population Genetics, Human Aging Research Institute and School of Life Science, Nanchang University, Nanchang, China * Feng Jiang and Han Yan contributed equally to the writing of this article. Correspondence to Xiao-Li Tian, Department of Human Population Genetics, Institute of Molecular Medicine, Peking University, 5 Yiheyuan Road, Beijing 100871, China Tel: +86 10 6275 5397; fax: +86 10 6275 6926; e-mail: [email protected], [email protected] Received January 20, 2016 Accepted August 11, 2016 Pharmacogenetics and Genomics: November 2016 - Volume 26 - Issue 11 - p 497-504 doi: 10.1097/FPC.0000000000000242 Buy SDC Metrics Abstract 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. Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved.