Large-scale assessment of polyglutamine repeat expansions in Parkinson disease
| العنوان: | Large-scale assessment of polyglutamine repeat expansions in Parkinson disease |
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| المؤلفون: | Wang, L, Aasly, J, Annesi, G, Bardien, S, Bozi, M, Brice, A, Carr, J, Chung, S, Clarke, C, Crosiers, D, Deutschländer, A, Eckstein, G, Farrer, M, Goldwurm, S, Garraux, G, Hadjigeorgiou, G, Hicks, A, Hattori, N, Klein, C, Jeon, B, Kim, Y, Lesage, S, Lin, J, Lynch, T, Lichtner, P, Lang, A, Mok, V, Jasinska-Myga, B, Mellick, G, Morrison, K, Opala, G, Pihlstrøm, L, Pramstaller, P, Park, S, Quattrone, A, Rogaeva, E, Ross, O, Stefanis, L, Stockton, J, Silburn, P, Theuns, J, Tan, E, Tomiyama, H, Toft, M, Van Broeckhoven, C, Uitti, R, Wirdefeldt, K, Wszolek, Z, Xiromerisiou, G, Yueh, K, Zhao, Y, Gasser, T, Maraganore, D, Krüger, R, Sharma, M, Boyle, RS, Sellbach, A, O'Sullivan, JD, Sutherland, GT, Siebert, GA, Dissanayaka, NN, Pickut, B, Engelborghs, S, Meeus, B, De Deyn, PP, Cras, P, Lang, AE, Tzourio, C, Amouyel, P, Loriot, MA, Mutez, E, Duflot, A, Legendre, JP, Waucquier, N, Riess, O, Berg, D, Schulte, C, Djarmati, A, Hagenah, J, Lohman, K, Auburger, G, Hilker, R, van de Loo, S, Dardiotis, E, Tsimourtou, V, Ralli, S, Kountra, P, Patramani, G, Vogiatzi, C, Funayama, M, Yoshino, H, Li, Y, Imamichi, Y, Toda, T, Satake, W, Valente, EM, Ferraris, A, Dallapiccola, B, Ialongo, T, Brighina, L, Corradi, B, Ferrarese, C, Piolti, MR, Tarantino, P, Annesi, F, Gagliardi, M, Jeon, BS, Klodowska-Duda, G, Boczarska-Jedynak, M, Tan, EK, Belin, AC, Olson, L, Galter, D, Westerlund, M, Sydow, O, Nilsson, C, Puschmann, A, Lin, JJ, Maraganore, DM, Ahlskog, J, de Andrade, M, Lesnick, TG, Rocca, WA, Checkowa, H, Ross, OA, Wszolek, ZK, Uitti, RJ |
| المساهمون: | Pathologic Biochemistry and Physiology, GEO-PD Consortium, Wang, L, Aasly, J, Annesi, G, Bardien, S, Bozi, M, Brice, A, Carr, J, Chung, S, Clarke, C, Crosiers, D, Deutschländer, A, Eckstein, G, Farrer, M, Goldwurm, S, Garraux, G, Hadjigeorgiou, G, Hicks, A, Hattori, N, Klein, C, Jeon, B, Kim, Y, Lesage, S, Lin, J, Lynch, T, Lichtner, P, Lang, A, Mok, V, Jasinska-Myga, B, Mellick, G, Morrison, K, Opala, G, Pihlstrøm, L, Pramstaller, P, Park, S, Quattrone, A, Rogaeva, E, Ross, O, Stefanis, L, Stockton, J, Silburn, P, Theuns, J, Tan, E, Tomiyama, H, Toft, M, Van Broeckhoven, C, Uitti, R, Wirdefeldt, K, Wszolek, Z, Xiromerisiou, G, Yueh, K, Zhao, Y, Gasser, T, Maraganore, D, Krüger, R, Sharma, M, Boyle, R, Sellbach, A, O'Sullivan, J, Sutherland, G, Siebert, G, Dissanayaka, N, Pickut, B, Engelborghs, S, Meeus, B, De Deyn, P, Cras, P, Tzourio, C, Amouyel, P, Loriot, M, Mutez, E, Duflot, A, Legendre, J, Waucquier, N, Riess, O, Berg, D, Schulte, C, Djarmati, A, Hagenah, J, Lohman, K, Auburger, G, Hilker, R, van de Loo, S, Dardiotis, E, Tsimourtou, V, Ralli, S, Kountra, P, Patramani, G, Vogiatzi, C, Funayama, M, Yoshino, H, Li, Y, Imamichi, Y, Toda, T, Satake, W, Valente, E, Ferraris, A, Dallapiccola, B, Ialongo, T, Brighina, L, Corradi, B, Ferrarese, C, Piolti, M, Tarantino, P, Annesi, F, Gagliardi, M, Klodowska-Duda, G, Boczarska-Jedynak, M, Belin, A, Olson, L, Galter, D, Westerlund, M, Sydow, O, Nilsson, C, Puschmann, A, Ahlskog, J, de Andrade, M, Lesnick, T, Rocca, W, Checkowa, H |
| المصدر: | Neurology Neurology (2015). doi:10.1212/WNL.0000000000002016 info:cnr-pdr/source/autori:Wang L1, Aasly JO1, Annesi G1, Bardien S1, Bozi M1, Brice A1, Carr J1, Chung SJ1, Clarke C1, Crosiers D1, Deutschländer A1, Eckstein G1, Farrer MJ1, Goldwurm S1, Garraux G1, Hadjigeorgiou GM1, Hicks AA1, Hattori N1, Klein C1, Jeon B1, Kim YJ1, Lesage S1, Lin JJ1, Lynch T1, Lichtner P1, Lang AE1, Mok V1, Jasinska-Myga B1, Mellick GD1, Morrison KE1, Opala G1, Pihlstrøm L1, Pramstaller PP1, Park SS1, Quattrone A1, Rogaeva E1, Ross OA1, Stefanis L1, Stockton JD1, Silburn PA1, Theuns J1, Tan EK1, Tomiyama H1, Toft M1, Van Broeckhoven C1, Uitti RJ1, Wirdefeldt K1, Wszolek Z1, Xiromerisiou G1, Yueh KC1, Zhao Y1, Gasser T1, Maraganore DM1, Krüger R1, Sharma M2; GEO-PD Consortium/titolo:Large-scale assessment of polyglutamine repeat expansions in Parkinson disease/doi:10.1212%2FWNL.0000000000002016/rivista:Neurology/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume ResearcherID |
| بيانات النشر: | Lippincott Williams and Wilkins, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Male, Age at onset, confidence interval, Genetic Epidemiology of Parkinson's Disease, Parkinson disease, spinocerebellar ataxia, Nerve Tissue Proteins, Disease, Biology, Parkinson Disease/epidemiology, Trinucleotide Repeat Expansion/genetics, Gene Frequency, Ataxins/genetics, Humans, Nerve Tissue Proteins/genetics, Genetic Predisposition to Disease, Risk factor, Allele frequency, Nuclear Protein, Aged, risk, Genetics, Medicine(all), Nuclear Proteins, Parkinson Disease, Ataxin, Odds ratio, Middle Aged, Phenotype, Nuclear Proteins/genetics, Genetic epidemiology, Ataxins, Gene Frequency/genetics, Nerve Tissue Protein, Peptide, Cohort, Female, Neurology (clinical), Human medicine, Trinucleotide repeat expansion, Peptides, Trinucleotide Repeat Expansion, Peptides/genetics, Human |
| الوصف: | Objectives: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). Methods: We invited researchers from the Genetic Epidemiology of Parkinson9s Disease Consortium to participate in the study. There were 12,346 cases and 8,164 controls genotyped, for a total of 4 repeats within the SCA2, SCA3, SCA6, and SCA17 genes. Fixed- and random-effects models were used to estimate the summary risk estimates for the genes. We investigated between-study heterogeneity and heterogeneity between different ethnic populations. Results: We did not observe any definite pathogenic repeat expansions for SCA2, SCA3, SCA6, and SCA17 genes in patients with idiopathic PD from Caucasian and Asian populations. Furthermore, overall analysis did not reveal any significant association between intermediate repeats and PD. The effect estimates (odds ratio) ranged from 0.93 to 1.01 in the overall cohort for the SCA2, SCA3, SCA6, and SCA17 loci. Conclusions: Our study did not support a major role for definite pathogenic repeat expansions in SCA2, SCA3, SCA6, and SCA17 genes for idiopathic PD. Thus, results of this large study do not support diagnostic screening of SCA2, SCA3, SCA6, and SCA17 gene repeats in the common idiopathic form of PD. Likewise, this largest multicentered study performed to date excludes the role of intermediate repeats of these genes as a risk factor for PD. |
| اللغة: | English |
| تدمد: | 0028-3878 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3b0fe39026c7bfeb5ea42ba83a45644Test https://doi.org/10.1212/wnl.0000000000002016Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....f3b0fe39026c7bfeb5ea42ba83a45644 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00283878 |
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