MEF2C rs190982 polymorphism with late-onset Alzheimer's disease in Han Chinese: A replication study and meta-analyses

// Shan-Shan Tang 1,* , Hui-Fu Wang 1,* , Wei Zhang 2 , Ling-Li Kong 3 , Zhan-Jie Zheng 3 , Meng-Shan Tan 1 , Chen-Chen Tan 1 , Zi-Xuan Wang 1 , Lin Tan 4 , Teng Jiang 5 , Jin-Tai Yu 1 and Lan Tan 1 1 Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, PR China 2 Department of Emergency, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, PR China 3 Department of Geriatric, Qingdao Mental Health Center, Qingdao, PR China 4 College of Medicine and Pharmaceutics, Ocean University of China, Qingdao, PR China 5 Department of Neurology, Nanjing First Hospital, Nanjing Medical University, Nanjing, PR China * These authors should be regarded as co-first authors Correspondence to: Lan Tan, email: // Wei Zhang, email: // Keywords : Alzheimer’s disease; MEF2C; rs190982; association study; meta-analysis; Gerotarget Received : March 22, 2016 Accepted : May 25, 2016 Published : June 03, 2016 Abstract The myocyte enhancer factor ( MEF2 ) family of transcription factors plays a vital role in memory and learning due to its functions in regulating synapse number and reducing dendritic spines. Myocyte enhancer factor 2 C ( MEF2C ) is regarded as modulator of amyloid-protein precursor (APP) proteolytic processing, in which amyloid-β (Aβ) is produced. A common single nucleotide polymorphism (SNP, rs190982) in MEF2C gene was identified to be related to late-onset Alzheimer’s disease (LOAD) in Caucasians in a large meta-analysis of genome-wide association studies (GWAS). Here, we recruited unrelated 984 LOAD patients and 1348 healthy controls matched for gender and age to ascertain whether the rs190982 polymorphism is related to LOAD in Han Chinese. No difference in the genotype and allele distributions of the MEF2C rs190982 polymorphism was found between LOAD cases and healthy controls (genotype: P = 0.861; allele: P = 0.862), even after stratification for APOE e4 allele as well as statistical adjustment for age, gender and APOE e4 status. Furthermore, the meta-analysis in 4089 Chinese individuals did not detect the association of rs190982 within MEF2C with the risk for LOAD (OR = 1.03, 95%CI = 0.90-1.18). Overall, the current evidence did not support the relation between rs190982 polymorphism within MEF2C and the LOAD risk in Northern Han Chinese.