| Title | Fine mapping of chromosome 3q22.3 identifies two haplotype blocks in ESYT3 associated with coronary artery disease in female Han Chinese |
| Authors | Jiang, Feng Dong, Yumei Wu, Chong Yang, Xi Zhao, Ling Guo, Jian Li, Yang Dong, Jie Zheng, Gu-Yan Cao, Huiqing Jin, Lijuan Ren, Yihong Cheng, Wenli Li, Weiyang Tian, Xiao-Li Li, Xueqi |
| Affiliation | Peking Univ, Inst Mol Med, Dept Human Populat Genet, Beijing 100871, Peoples R China. Harbin Med Coll, Affiliated Hosp 4, Dept Cardiol, Harbin 150001, Peoples R China. Harbin Med Coll, Affiliated Hosp 2, Dept Cardiol, Harbin 150001, Peoples R China. Peoples Liberat Army Gen Hosp, Cardiovasc Dept, Beijing 100853, Peoples R China. China Japan Friendship Hosp, Dept Natl Integrat Med, Ctr Cardiovasc Dis, Beijing 100029, Peoples R China. Mudanjiang Med Univ, HongQi Hosp, Dept Cardiol, Mudanjiang City 157011, Peoples R China. Peking Univ, Inst Mol Med, Dept Human Populat Genet, 5 Yiheyuan Rd, Beijing 100871, Peoples R China. |
| Keywords | Chromosome 3q22.3 Haplotype block Coronary artery disease ESYT3 GENOME-WIDE LINKAGE MYOCARDIAL-INFARCTION SUSCEPTIBILITY LOCUS HEART-DISEASE RISK METAANALYSIS REGIONS |
| Issue Date | 2011 |
| Publisher | atherosclerosis |
| Citation | ATHEROSCLEROSIS.2011,218,(2),397-403. |
| Abstract | Objective: Genome-wide association study recently identified the chromosome 3q22.3 as a novel locus associated with coronary artery disease (CAD). This study was designed to identify the critical haplotype blocks within this region in Han Chinese populations. Methods: We selected 1920 CAD patients and healthy participants from Han Chinese and genotyped 22 single nucleotide polymorphisms (SNPs) spanning 150 kilobases (kb) chromosomal region flanking rs9818870, a SNP associated with CAD at 3q22.3 in Caucasian. Results: Seven SNPs were found to be strongly associated with CAD in females and clustered in two haplotype blocks of ESYT3 gene. This was validated in two geographically isolated case-control populations. The two blocks were 14 and 25 kb long, respectively. In a combined haplotype analysis, the odds ratios (95% confidence interval, permuted P value) were 0.70 (0.58-0.83, 2 x 10(-5)) and 1.44 (1.20-1.72, 5 x 10(-5)) for haplotypes TTG and CCA in block 1 as well as 0.73 (0.61-0.87, 3 x 10(-4)) and 1.35 (1.13-1.62, 0.0013) for haplotypes TCG and CTT in block 2, respectively. ESYT3 was expressed in human lymphocyte, vascular endothelial cell, and smooth muscle cell. The risk factors including gender, obesity, hypertension, diabetes, and hyperlipidemia exhibited strong effects on the genetic contribution to CAD. Conclusion: We identified two haplotype blocks of ESYT3 gene in 3q22.3 region that likely harbor functional variants, which cooperate with other risk factors and play a role in the pathogenesis of coronary artery disease in females. (C) 2011 Elsevier Ireland Ltd. All rights reserved. |
| URI | http://hdl.handle.net/20.500.11897/237868 |
| ISSN | 0021-9150 |
| DOI | 10.1016/j.atherosclerosis.2011.06.017 |
| Indexed | SCI(E) |
| Appears in Collections: | 分子医学研究所 |
