Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China

Bin Jiao; Xiaoyan Liu; Beisha Tang; Lihua Hou; Lin Zhou; Fufeng Zhang; Yafang Zhou; Jifeng Guo; Xinxiang Yan; Lu Shen

doi:10.1016/j.neurobiolaging.2014.04.025

Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China

Neurobiol Aging. 2014 Oct;35(10):2422.e9-2422.e11. doi: 10.1016/j.neurobiolaging.2014.04.025. Epub 2014 May 1.

Authors

Bin Jiao¹, Xiaoyan Liu¹, Beisha Tang², Lihua Hou¹, Lin Zhou³, Fufeng Zhang³, Yafang Zhou³, Jifeng Guo², Xinxiang Yan³, Lu Shen⁴

Affiliations

¹ Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
² Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; State Key Laboratory of Medical Genetics, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
³ Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
⁴ Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; State Key Laboratory of Medical Genetics, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China. Electronic address: [email protected].

PMID: 24866402
DOI: 10.1016/j.neurobiolaging.2014.04.025

Abstract

Recently, 3 rare coding variants significantly associated with Alzheimer's disease (AD) risk have been identified in western populations using whole exome sequencing method, including p.R47H in TREM2, p.V232M in PLD3, and p.T835M in UNC5C. To examine whether these variants are genetic risk factors in patients with AD from mainland China, we sequenced exon 2 of TREM2, exon 9 of PLD3, and exon 15 of UNC5C in Chinese Han population including 360 patients with AD and 400 control individuals. As a result, none of these 3 variants were identified in all subjects, however, 1 novel variant (p.A130V) in TREM2 and 4 novel variants (p.Q860H, p.T837K, p.S843G, and p.V836V) in UNC5C were detected in unrelated patients with late-onset AD. These findings suggest the 3 rare coding variants might not play an important role in AD risk in mainland China.

Keywords: Alzheimer's disease; PLD3; Risk factor; TREM2; UNC5C.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Aged
Alzheimer Disease / genetics*
Asian People / genetics
China
Female
Genetic Association Studies*
Genetic Variation*
Humans
Male
Membrane Glycoproteins / genetics*
Middle Aged
Netrin Receptors
Phospholipase D / genetics*
Receptors, Cell Surface / genetics*
Receptors, Immunologic / genetics*
Risk Factors

Substances

Membrane Glycoproteins
Netrin Receptors
Receptors, Cell Surface
Receptors, Immunologic
TREM2 protein, human
UNC5C protein, human
PLD3 protein, human
Phospholipase D