CALHM1 P86L Polymorphism is a Risk Factor for Alzheimer's Disease in the Chinese Population

Issue title: Similarities and Differences Between Mild Cognitive Impairment and Alzheimer's Disease

Guest editors: Mark A. Lovell

Article type: Short Communication

Authors: Cui, Pei-Jing^{a; 1} | Zheng, Lan^{a; 1} | Cao, Li^a | Wang, Ying^a | Deng, Yu-Lei^a | Wang, Gang^a | Xu, Wei^a | Tang, Hui-Dong^a | Ma, Jian-Fang^a | Zhang, Ting^a | Ding, Jian-Qing^{a; *} | Cheng, Qi^{c; *} | Chen, Sheng-Di^{a; b; *}

Affiliations: [a] Department of Neurology & Institute of Neurology, Ruijin Hospital affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China | [b] Lab of Neurodegenerative Diseases, Institute of Health Science, Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS) & Shanghai Jiaotong University School of Medicine, Shanghai, China | [c] School of Public Health, Shanghai Jiaotong University, Shanghai, China | Sanders-Brown Center on Aging and Alzheimer's Disease Center, Department of Chemistry, University of Kentucky, Lexington, Kentucky, USA

Correspondence: [*] Corresponding authors: Sheng-Di Chen or Jian-Qing Ding, Department of Neurology & Institute of Neurology, Ruijin Hospital affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200025, China. E-mail: chen_sd@medmail.com.cn; jqding18@yahoo.com. Or Qi Cheng, School of Public Health, Shanghai Jiaotong University, Shanghai, 200025 China. E-mail: qicheng@shsmu.edu.cn.

Note: [1] These authors contributed equally to this work.

Note: [] Communicated by Thomas Ala

Abstract: We conducted a case-control study to determine the prevalence of the CALHM1 P86L polymorphism (rs2986017) in patients with Alzheimer's disease (AD) in the Chinese population of mainland China, and also to clarify whether this polymorphism is a risk factor for AD. Fourteen heterozygous P86L carriers were identified among 198 AD patients. One control subject was also found to be a P86L heterozygous carrier. The allelic frequencies of the AD patients and control subjects were found to be significantly different. Our study indicates that the CALHM1-P86L polymorphism is associated with AD in the ethnic Chinese Han.

Keywords: Alzheimer's disease, CALHM1, P86L, polymorphism

DOI: 10.3233/JAD-2010-1207

Journal: Journal of Alzheimer's Disease, vol. 19, no. 1, pp. 31-35, 2010