title: Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China.
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.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Jiao
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Liu
authors.affiliation: 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.
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Lihua
authors.initials: L
authors.lastname: Hou
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Zhou
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
authors.forename: Fufeng
authors.initials: F
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
authors.forename: Yafang
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: 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.
authors.forename: Jifeng
authors.initials: J
authors.lastname: Guo
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
authors.forename: Xinxiang
authors.initials: X
authors.lastname: Yan
authors.affiliation: 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: shenlu2505@126.com.
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002681:China; D005260:Female; D056726:Genetic Association Studies; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D000075386:Netrin Receptors; D010739:Phospholipase D / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics*; D011971:Receptors, Immunologic / Q000235:genetics*; D012307:Risk Factors; D005090:Exodeoxyribonucleases
chemical_list: D008562:Membrane Glycoproteins; D000075386:Netrin Receptors; D010739:Phospholipase D; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic; C498715:TREM2 protein, human; C115727:UNC5C protein, human; C586092:PLD3 protein, human; D005090:Exodeoxyribonucleases
keywords: Alzheimer's disease; PLD3; Risk factor; TREM2; UNC5C