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.


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) and 1.24 (1.13-1.36, 2.576×10) for haplotypes ATGGG and GCACA in block 1 and 1.22 (1.14-1.30, 6.484×10) and 0.82 (0.77-0.88, 6.484×10) 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.


CONCLUSIONS
We identified a novel block associated with CAD at chromosomal 12q24.
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
F
Jiang
Han
H
Yan
Chong
C
Wu
Chun
C
Song
Bin
B
Zhao
Yang
Y
Li
Jie
J
Dong
Gu-Yan
GY
Zheng
Li-Juan
LJ
Jin
Xue-Qi
XQ
Li
Wei-Yang
WY
Li
Jun
J
Cai
Xin-Chun
XC
Yang
Xiao-Li
XL
Tian
D044466:Asian People / Q000208:ethnology* / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D003324:Coronary Artery Disease / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D061307:Human Umbilical Vein Endothelial Cells; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide