Replication of the MTHFD1L Gene Association with Late-Onset Alzheimer's Disease in a Northern Han Chinese Population

Article type: Short Communication

Authors: Ma, Xiao-Ying^a | Yu, Jin-Tai^{a; b; *} | Wu, Zhong-Chen^a | Zhang, Qun^a | Liu, Qiu-Yan^a | Wang, Hui-Fu^a | Wang, Wei^a | Tan, Lan^{a; b; *}

Affiliations: [a] Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, China | [b] College of Medicine and Pharmaceutics, Ocean University of China, Qingdao, China

Correspondence: [*] Correspondence to: Lan Tan and Jin-Tai Yu, Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, No. 5 Donghai Middle Road, Qingdao 266071, PR China. Tel.: +86 532 8890 5659; Fax: +86 532 85968434; E-mail: [email protected] (Lan Tan); [email protected] (Jin-Tai Yu). E-mail: [email protected] (Lan Tan); [email protected] (Jin-Tai Yu).

Abstract: We conducted a replication study of the 2 genetic variants, rs11754661 and rs2073067, in MTHFD1L that have been recently reported to be associated with late-onset Alzheimer's disease (LOAD) in a genome-wide study in Caucasians. The associations were evaluated in a case-control sample comprising 1,189 Northern Han-Chinese individuals. The rs11754661 polymorphism is associated with LOAD (OR = 1.727; p = 0.016). For rs2073067, LOAD association was found only in APOEε4 carriers (OR = 0.400; p < 0.001). Haplotype analysis revealed the “AC” haplotype increased the risk of developing LOAD (OR = 1.730; p = 0.015). Our findings support a role of MTHFD1L gene in LOAD.

Keywords: Alzheimer's disease (AD), homocysteine, MTHFD1L, single nucleotide polymorphism

DOI: 10.3233/JAD-2011-111847

Journal: Journal of Alzheimer's Disease, vol. 29, no. 3, pp. 521-525, 2012