Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China - PubMed (original) (raw)

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

Bin Jiao et al. Neurobiol Aging. 2014 Oct.

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.

PubMed Disclaimer

Cited by

The relationship of early- and late-onset Alzheimer's disease genes with COVID-19.
Sirin S, Nigdelioglu Dolanbay S, Aslim B. Sirin S, et al. J Neural Transm (Vienna). 2022 Jul;129(7):847-859. doi: 10.1007/s00702-022-02499-0. Epub 2022 Apr 16. J Neural Transm (Vienna). 2022. PMID: 35429259 Free PMC article. Review.
The most prevalent rare coding variants of TREM2 conferring risk of Alzheimer's disease: A systematic review and meta-analysis.
Li R, Wang X, He P. Li R, et al. Exp Ther Med. 2021 Apr;21(4):347. doi: 10.3892/etm.2021.9778. Epub 2021 Feb 11. Exp Ther Med. 2021. PMID: 33732320 Free PMC article.
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Acosta-Uribe J, Aguillón D, Cochran JN, Giraldo M, Madrigal L, Killingsworth BW, Singhal R, Labib S, Alzate D, Velilla L, Moreno S, García GP, Saldarriaga A, Piedrahita F, Hincapié L, López HE, Perumal N, Morelo L, Vallejo D, Solano JM, Reiman EM, Surace EI, Itzcovich T, Allegri R, Sánchez-Valle R, Villegas-Lanau A, White CL 3rd, Matallana D, Myers RM, Browning SR, Lopera F, Kosik KS. Acosta-Uribe J, et al. Genome Med. 2022 Mar 8;14(1):27. doi: 10.1186/s13073-022-01035-9. Genome Med. 2022. PMID: 35260199 Free PMC article.
Complement C7 is a novel risk gene for Alzheimer's disease in Han Chinese.
Zhang DF, Fan Y, Xu M, Wang G, Wang D, Li J, Kong LL, Zhou H, Luo R, Bi R, Wu Y, Li GD; Alzheimer's Disease Neuroimaging Initiative (ADNI); Li M, Luo XJ, Jiang HY, Tan L, Zhong C, Fang Y, Zhang C, Sheng N, Jiang T, Yao YG. Zhang DF, et al. Natl Sci Rev. 2019 Mar;6(2):257-274. doi: 10.1093/nsr/nwy127. Epub 2018 Nov 5. Natl Sci Rev. 2019. PMID: 31032141 Free PMC article.
The Genetics of Alzheimer's Disease in the Chinese Population.
Gan CL, Zhang T, Lee TH. Gan CL, et al. Int J Mol Sci. 2020 Mar 30;21(7):2381. doi: 10.3390/ijms21072381. Int J Mol Sci. 2020. PMID: 32235595 Free PMC article. Review.

Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China - PubMed (original) (raw)