Relationship between chemokine (C–X–C motif) ligand 12 gene variant (rs1746048) and coronary heart disease: Case–control study and meta-analysis

• Published in: Gene Vol. 521; no. 1; pp. 38 - 44
• Main Authors: Huang, Yi, Zhou, Jianqing, Ye, Huadan, Xu, Limin, Le, Yanping, Yang, Xi, Xu, Weifeng, Huang, Xiaoyan, Lian, Jiangfang, Duan, Shiwei
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 25.05.2013
• Subjects: Aged; alleles; Amino Acid Motifs; Asian Continental Ancestry Group - genetics; Case-Control Studies; Chemokine CXCL12 - genetics; chemokines; coronary disease; Coronary Disease - genetics; Coronary heart disease; CXCL12; Female; Genetic Predisposition to Disease; genotype; Humans; Male; males; Meta-analysis; Middle Aged; nationalities and ethnic groups; Odds Ratio; Polymorphism, Single Nucleotide; risk; risk factors; SNP; CXCL12; SNP; Coronary heart disease; CHD; HWE; Meta-analysis
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2013.02.047

The goal of our study is to evaluate the contribution of CXCL12 rs1746048 (hg19, chr10:44775574) to the risk of CHD in Han Chinese, and to summarize its role in CHD through meta-analysis of existing studies among various ethnic groups. Significant association is observed between rs1746048-C and an increased risk of CHD in Han Chinese (χ2=5.41, df=1, P=0.02). Post hoc analysis reveals an even stronger association of rs1746048 with the risk of CHD for subjects aged 65years or older (genotype: χ2=8.39, df=2, P=0.015; allele: χ2=9.13, df=1, P=0.003, odd ratio (OR)=1.91, 95% confidential interval (CI)=1.25–2.91). A break down analysis by gender shows that rs1746048 is likely a CHD risk factor under the recessive model in males (CC+CT versus TT: P=0.05, χ2=3.59, df=1, OR=1.72, 95% CI=1.00–3.04). In addition, a meta-analysis of ten studies among over 107,000 individuals confirms that rs1746048 is a risk factor of CHD (P<0.0001, OR=1.12, 95% CI=1.09–1.15) and this agrees with the findings of our case–control study in Han Chinese. •Allele rs1746048-C is a risk factor of CHD in Chinese.•SNP rs1746048 may contribute its role to CHD under the dominant model.•rs1746048-C has a 91% increased risk of CHD among Han Chinese older ≥65.•A meta-analysis of over 107000 individuals established the link of rs1746048 to CHD.