Genetic variations in chromodomain helicase DNA-binding protein 5 , gene-environment interactions and risk of sporadic Alzheimer’s disease in Chinese population

// Xiao Zhu 1,7,* , Haibing Yu 1,* , Qin Xiao 2,* , Jianhao Ke 3,* , Hongmei Li 1 , Zhihong Chen 1 , Hongrong Ding 1 , Shuilong Leng 4 , Yongmei Huang 6 , Jingting Zhan 6 , Jinli Lei 6 , Wenguo Fan 5 and Hui Luo 1,6 1 Key Laboratory of Medical Molecular Diagnosis, Dongguan Scientific Research Center, Guangdong Medical University, Dongguan, China 2 Department of Blood Transfusion, Peking University Shenzhen Hospital, Shenzhen, China 3 Tropical Crops Department, Guangdong AIB Polytechnic, Guangzhou, China 4 Department of Human Anatomy, Guangzhou Medical University, Guangzhou, China 5 Department of Anatomy and Physiology, Guanghua School of Stomatology, Sun Yat-sen University, Guangzhou, China 6 Institute of Marine Medicine Research, Guangdong Medical University, Zhanjiang, China 7 Institute of Bioinformatics, University of Georgia, Athens, GA, USA * These authors have contributed equally to this work Correspondence to: Hui Luo, email: luohui@gdmu.edu.cn Wenguo Fan, email: fanweng@mail.sysu.edu.cn Keywords : Alzheimer’s disease; case-control studies; CHD5; gene-environment interactions; single-nucleotide polymorphisms; Gerotarget Received: August 10, 2017     Accepted: December 05, 2017     Epub: January 01, 2018     Published: May 18, 2018 Abstract CHD5 is an essential factor for neuronal differentiation and neurodegenerative diseases. Here, the targeted next generation sequencing and TaqMan genotyping technologies were carried out for CHD5 gene in a two-staged case-control study in Chinese population. The genetic statistics and gene-environment interactions were analyzed to find certain risk factors of Alzheimer’s disease. We found intronic rs11121295 was associated with the risk of Alzheimer’s disease at both stages including combined cohorts. This risk effect presented consistently significant associations with the alcoholic subgroups at both all stages in the stratified analysis. The gene-environment interactions further supported the above findings. Our study highlighted the potential role of CHD5 variants in conferring susceptibility to sporadic Alzheimer’s disease, especially modified its risk by alcoholic intake.