Functional rare variant in a C/EBP beta binding site in NINJ2 gene increases the risk of coronary artery disease
Pengyun Wang, Yifan Wang, Huixin Peng, Jingjing Wang, Qian Zheng, Pengxia Wang, Jing Wang, Hongfu Zhang, Yufeng Huang, Liang Xiong, Rongfeng Zhang, Yunlong Xia, Qing Wang, Chengqi Xu
Abstract
OBJECTIVE: are associated with coronary artery disease (CAD) is unknown. METHODS: in two independent Chinese GeneID populations which included 2,794 CAD cases and 4,131 controls, and performed genetics association studies. Functional studies were also performed to reveal the mechanisms. RESULTS: and the flanking region of rs34166160 can directly bind with transcriptional factor CCAAT-box/enhancer-binding protein beta, and the risk A allele has more transcription activity than non-risk C allele with or without LPS in HUVEC cells. CONCLUSIONS: confers risk to CAD for the first time, and these findings further expand the range of the pathology of CAD and atherosclerosis.