دورية أكاديمية
A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease
| العنوان: | A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease |
|---|---|
| المؤلفون: | Plagnol, V, Nalls, MA, Bras, JM, Hernandez, DG, Sharma, M, Sheerin, UM, Saad, M, Simon-Sanchez, J, Schulte, C, Lesage, S, Sveinbjornsdottir, S, Amouyel, P, Arepalli, S, Band, G, Barker, RA, Bellinguez, C, Ben-Shlomo, Y, Berendse, HW, Berg, D, Bhatia, K, de Bie, RMA, Biffi, A, Bloem, B, Bochdanovits, Z, Bonin, M, Brockmann, K, Brooks, J, Burn, DJ, Charlesworth, G, Chen, HL, Chinnery, PF, Chong, S, Clarke, CE, Cookson, MR, Cooper, JM, Corvol, JC, Counsell, C, Damier, P, Dartigues, JF, Deloukas, P, Deuschl, G, Dexter, DT, van Dijk, KD, Dillman, A, Durif, F, Durr, A, Edkins, S, Evans, JR, Foltynie, T, Freeman, C, Gao, JJ, Gardner, M, Gibbs, JR, Goate, A, Gray, E, Guerreiro, R, Gustafsson, O, Harris, C, Hellenthal, G, van Hilten, JJ, Hofman, A, Hollenbeck, A, Holton, J, Hu, M, Huang, XM, Huber, H, Hudson, G, Hunt, SE, Huttenlocher, J, Illig, T, Jonsson, PV, Langford, C, Lees, A, Lichtner, P, Limousin, P, Lopez, G, Lorenz, D, McNeill, A, Moorby, C, Moore, M, Morris, H, Morrison, KE, Mudanohwo, E, O'Sullivan, SS, Pearson, J, Pearson, R, Perlmutter, JS, Petursson, H, Pirinen, M, Pollak, P, Post, B, Potter, S, Ravina, B, Revesz, T, Riess, O, Rivadeneira, F, Rizzu, P, Ryten, M, Sawcer, S, Schapira, A, Scheffer, H, Shaw, K, Shoulson, I, Sidransky, E, de Silva, R, Smith, C, Spencer, CCA, Stefansson, H, Steinberg, S, Stockton, JD, Strange, A, Su, Z, Talbot, K, Tanner, CM, Tashakkori-Ghanbaria, A, Tison, F, Trabzuni, D, Traynor, BJ, Uitterlinden, AG, Vandrovcova, J, Velseboer, D, Vidailhet, M, Vukcevic, D, Walker, R, van de Warrenburg, B, Weale, ME, Wickremaratchi, M, Williams, N, Williams-Gray, CH, Winder-Rhodes, S, Stefansson, K, Martinez, M, Donnelly, P, Singleton, AB, Hardy, J, Heutink, P, Brice, A, Gasser, T, Wood, NW, WTCCC2 |
| المصدر: | PLoS Genetics , 7 (6) , Article e1002142. (2011) |
| بيانات النشر: | PUBLIC LIBRARY SCIENCE |
| سنة النشر: | 2011 |
| المجموعة: | University College London: UCL Discovery |
| مصطلحات موضوعية: | genome-wide association, fibroblast-growth-factor, alpha-synuclein, gene, mutations, risk, population, haplotypes, variants, sequence |
| الوصف: | A previous genome-wide association (GWA) meta-analysis of 12,386 PD cases and 21,026 controls conducted by the International Parkinson's Disease Genomics Consortium (IPDGC) discovered or confirmed 11 Parkinson's disease (PD) loci. This first analysis of the two-stage IPDGC study focused on the set of loci that passed genome-wide significance in the first stage GWA scan. However, the second stage genotyping array, the ImmunoChip, included a larger set of 1,920 SNPs selected on the basis of the GWA analysis. Here, we analyzed this set of 1,920 SNPs, and we identified five additional PD risk loci (combined p<5x10(-10), PARK16/1q32, STX1B/16p11, FGF20/8p22, STBD1/4q21, and GPNMB/7p15). Two of these five loci have been suggested by previous association studies (PARK16/1q32, FGF20/8p22), and this study provides further support for these findings. Using a dataset of post-mortem brain samples assayed for gene expression (n = 399) and methylation (n = 292), we identified methylation and expression changes associated with PD risk variants in PARK16/1q32, GPNMB/7p15, and STX1B/16p11 loci, hence suggesting potential molecular mechanisms and candidate genes at these risk loci. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | https://discovery.ucl.ac.uk/id/eprint/1321806/1/journal.pgen.1002142.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1321806Test/ |
| الإتاحة: | https://discovery.ucl.ac.uk/id/eprint/1321806/1/journal.pgen.1002142.pdfTest https://discovery.ucl.ac.uk/id/eprint/1321806Test/ |
| حقوق: | open |
| رقم الانضمام: | edsbas.AFBC6748 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |