https://scholars.lib.ntu.edu.tw/handle/123456789/520063
標題: | The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants | 作者: | Heckman M.G. Elbaz A. Soto-Ortolaza A.I. Serie D.J. Aasly J.O. Annesi G. Auburger G. Bacon J.A. Boczarska-Jedynak M. Bozi M. Brighina L. Chartier-Harlin M.-C. Dardiotis E. Dest?e A. Ferrarese C. Ferraris A. Fiske B. Gispert S. Hadjigeorgiou G.M. Hattori N. Ioannidis J.P.A. Jasinska-Myga B. Jeon B.S. Kim Y.J. Klein C. Kruger R. Kyratzi E. CHIN-HSIEN LIN Lohmann K. Loriot M.-A. Lynch T. Mellick G.D. Mutez E. Opala G. Park S.S. Petrucci S. Quattrone A. Sharma M. Silburn P.A. Sohn Y.H. Stefanis L. Tadic V. Tomiyama H. Uitti R.J. Valente E.M. Vassilatis D.K. Vilari?o-G?ell C. White L.R. Wirdefeldt K. Wszolek Z.K. RUEY-MEEI WU Xiromerisiou G. Maraganore D.M. Farrer M.J. Ross O.A. |
公開日期: | 2014 | 出版社: | Elsevier Inc. | 卷: | 35 | 期: | 1 | 起(迄)頁: | 266.e5-14 | 來源出版物: | Neurobiology of Aging | 摘要: | The best validated susceptibility variants for Parkinson's disease are located in the α-synuclein (SNCA) and microtubule-associated protein tau (MAPT) genes. Recently, a protective p.N551K-R1398H-K1423K haplotype in the leucine-rich repeat kinase 2 (LRRK2) gene was identified, with p.R1398H appearing to be the most likely functional variant. To date, the consistency of the protective effect of LRRK2 p.R1398H across MAPT and SNCA variant genotypes has not been assessed. To address this, we examined 4 SNCA variants (rs181489, rs356219, rs11931074, and rs2583988), the MAPT H1-haplotype-defining variant rs1052553, and LRRK2 p.R1398H (rs7133914) in Caucasian (n= 10,322) and Asian (n= 2289) series. There was no evidence of an interaction of LRRK2 p.R1398H with MAPT or SNCA variants (all p ? 0.10); the protective effect of p.R1398H was observed at similar magnitude across MAPT and SNCA genotypes, and the risk effects of MAPT and SNCA variants were observed consistently for LRRK2 p.R1398H genotypes. Our results indicate that the association of LRRK2 p.R1398H with Parkinson's disease is independent of SNCA and MAPT variants, and vice versa, in Caucasian and Asian populations. ? 2014 Elsevier Inc. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84885187895&doi=10.1016%2fj.neurobiolaging.2013.07.013&partnerID=40&md5=c48720fbe029c3486de13248dcaf6b50 https://scholars.lib.ntu.edu.tw/handle/123456789/520063 |
ISSN: | 0197-4580 | DOI: | 10.1016/j.neurobiolaging.2013.07.013 | SDG/關鍵字: | alpha synuclein; leucine rich repeat kinase 2; tau protein; adult; article; Asian; Caucasian; controlled study; ethnic difference; female; gene; gene interaction; genetic analysis; genetic variability; genotype; haplotype; human; LRRK2 gene; major clinical study; male; MAPT gene; neuroprotection; Parkinson disease; priority journal; SNCA gene; Genetics; Interaction; LRRK2; MAPT; Parkinson's disease; SNCA; Adolescent; Adult; Aged; Aged, 80 and over; alpha-Synuclein; Asian Continental Ancestry Group; European Continental Ancestry Group; Female; Genetic Predisposition to Disease; Genetic Variation; Genotype; Haplotypes; Humans; Male; Middle Aged; Parkinson Disease; Protein-Serine-Threonine Kinases; Risk; tau Proteins; Young Adult |
顯示於: | 醫學系 |
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