Association in a Chinese population of a genetic variation in the early B-cell factor 1 gene with coronary artery disease.
Early B-cell factor 1 (EBF1) is a transcription factor expressed primarily during early B cell development. Previous studies have shown EBF1 regulates blood glucose and lipid metabolism in mice with diabetes and central adiposity. Recently, a genetic variation (rs36071027) located in an EBF1 gene intron was associated with carotid artery intima-media thickness. However, whether this polymorphism is actually linked with coronary artery disease (CAD) and its severity remains unclear.



This study includes 293 CAD cases and 262 controls without CAD. All participants were devided into two groups based on their coronary angiography results. A polymerase chain reaction-ligase detection reaction was used to identify genotypes at rs36071027, and CAD patients were further divided into subgroups with one-, two-, or three-vessel stenosis reflective of CAD severity.



The frequency of the rs36071027 TT genotype was significantly higher in CAD cases versus controls (4.8% vs. 1.5%, 95% CI: 1.13-10.81 P = 0.029). Subjects with a variant genotype T allele had an increased risk of CAD compared to C allele carriers (additive model: 95% CI: 1.13-2.23, P = 0.008). After adjustment for cardiovascular risk factors, analysis of the additive and dominant models involving rs36071027 also revealed that T allele carriers had a significantly higher risk for CAD than C allele carriers (additive model: OR 1.56, 95% CI 1.10-2.22, P = 0.013; dominant model: OR 1.60, 95% CI 1.07-2.41, P = 0.023). Furthermore, both diabetes and the CT + TT rs36071027 genotype were significantly associated with three-vessel stenosis.



Our results in a Chinese population suggest that the TT genotype and T alleles in rs36071027 in the EBF1 gene are associated with an increased risk of CAD and its severity.
Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, No. 300 Guangzhou Road, Gu Lou Area, Nanjing, 210029, China.
Yafei
Y
Li
Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, No. 300 Guangzhou Road, Gu Lou Area, Nanjing, 210029, China.
Zhiyong
Z
Xie
Department of Cardiology, Xuzhou Medical University, NO.209 Tongshan Road, Xuzhou, 221000, China.
Lei
L
Chen
Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, No. 300 Guangzhou Road, Gu Lou Area, Nanjing, 210029, China.
Jianjun
J
Yan
Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, No. 300 Guangzhou Road, Gu Lou Area, Nanjing, 210029, China.
Yao
Y
Ma
Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, No. 300 Guangzhou Road, Gu Lou Area, Nanjing, 210029, China. drlswang@njmu.edu.cn.
Liansheng
L
Wang
Department of Cardiology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital East Campus, No. 222 Huanhu Xisan Road, Pudong New Area, Shanghai, 201306, China. zhongchen7498@hotmail.com.
Zhong
Z
Chen
D000368:Aged; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D003324:Coronary Artery Disease / Q000000981:diagnostic imaging / Q000208:ethnology / Q000235:genetics*; D023921:Coronary Stenosis / Q000000981:diagnostic imaging / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D016017:Odds Ratio; D010641:Phenotype; D011110:Polymorphism, Genetic; D018570:Risk Assessment; D012307:Risk Factors; D012720:Severity of Illness Index; D015534:Trans-Activators / Q000235:genetics*
C081976:EBF1 protein, human; D015534:Trans-Activators
Coronary artery disease; Early B-cell factor 1; Genetic polymorphism; Risk assessment