APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers
| Autor: | Reinhold Schmidt, Beata Zakrzewska-Pniewska, W. E. R. Ollier, Alastair Compston, Rita Cittadella, Helena Schmidt, Jonathan L. Haines, Stephen Sawcer, Richard M. Burwick, S. J. M. Weatherby, Hubert Kwieciński, Patricia P. Ramsay, Christian Enzinger, Lisa F. Barcellos, Masaaki Niino, Nikos Evangelou, Jacqueline Palace, Chris H. Polman, Seiji Kikuchi, Franz Fazekas, Aldo Quattrone, J. Zwemmer, Peter Høgh, Margaret A. Pericak-Vance, Jan Hillert, Bernard M. J. Uitdehaag, Stephen L. Hauser, Maria Edite Rio, Giovanni Savettieri, Silke Schmidt, Mónica Santos, Patrícia Maciel, Jorge R. Oksenberg, C. P. Hawkins, Thomas Masterman |
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| Přispěvatelé: | [et al.], Universidade do Minho, Burwick, RM, Ramsay, PP, Haines, JL, Hauser, SL, Oksenberg, JR, Pericak-Vance, MA, Schmidt, S, Compston, A, Sawcer, S, Cittadella,R, Savettieri,G, Quattrone,A, Polman,CH, Uitdehaag, BM, Zwemmer, JN, Hawkins,CP, Ollier, WE, Weatherby, S, Enzinger, C, Fazekas, F, Schmidt, H, Schmidt, R, Hillert, J, Masterman, T, Hogh, P, Niino, M, Kikuchi,S, Maciel, P, Santos, M, Rio, ME, Kwiecinski, H, Zakrzewska-Pniewska, B, Evangelou, N, Palace, J, Barcellos, LF. |
| Jazyk: | angličtina |
| Rok vydání: | 2006 |
| Předmět: |
Apolipoprotein E
Oncology Risk medicine.medical_specialty Pathology Multiple Sclerosis Genotype Apolipoprotein E2 Apolipoprotein E4 Polymorphism Single Nucleotide Severity of Illness Index Linkage Disequilibrium Primary progressive Central nervous system disease 03 medical and health sciences 0302 clinical medicine Apolipoproteins E Disease severity Polymorphism (computer science) Internal medicine medicine Humans Genetic Predisposition to Disease 10. No inequality Alleles 030304 developmental biology 0303 health sciences Expanded Disability Status Scale Polymorphism Genetic Science & Technology business.industry Multiple sclerosis medicine.disease 3. Good health Pedigree Phenotype Case-Control Studies Settore MED/26 - Neurologia Neurology (clinical) business Multiple Sclerosis APOE disease severity meta-analysis 030217 neurology & neurosurgery |
| Zdroj: | Repositório Científico de Acesso Aberto de Portugal Repositório Científico de Acesso Aberto de Portugal (RCAAP) instacron:RCAAP Neurology 66 (2006): 1373–1383. info:cnr-pdr/source/autori:R.M. Burwick, MD, MPH; P.P. Ramsay, MPH; J.L. Haines, PhD; S.L. Hauser, MD; J.R. Oksenberg, PhD; M.A. Pericak-Vance, PhD; S. Schmidt, PhD; A. Compston, PhD; S. Sawcer, PhD; R. Cittadella; G. Savettieri, MD; A. Quattrone, MD; C.H. Polman, MD, PhD; B.M.J. Uitdehaag, MD, PhD; J.N.P. Zwemmer, MD; C.P. Hawkins, MD, FRCP; W.E.R. Ollier, PhD; S. Weatherby, MRCP, MD; C. Enzinger, MD; F. Fazekas, MD; H. Schmidt, MD, MSC; R. Schmidt, MD; J. Hillert, MD, PhD; T. Masterman, PhD; P. Hogh, MD, PhD; M. Niino, MD, PhD; S. Kikuchi, MD, PhD; P. Maciel, PhD; M. Santos, BSc; M.E. Rio, MD; H. Kwiecinski, MD, PhD; B. Zakrzewska-Pniewska, MD, PhD; N. Evangelou, MRCP, Dphil; J. Palace, BM, DM, FRCP; and L.F. Barcellos, PhD/titolo:APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers/doi:/rivista:Neurology/anno:2006/pagina_da:1373/pagina_a:1383/intervallo_pagine:1373–1383/volume:66 |
| Popis: | Background: Previous studies have examined the role of APOE variation in multiple sclerosis (MS), but have lacked the statistical power to detect modest genetic influences on risk and disease severity. The meta- and pooled analyses presented here utilize the largest collection, to date, of MS cases, controls, and families genotyped for the APOE epsilon polymorphism. Methods: Studies of MS and APOE were identified by searches of PubMed, Biosis, Web of Science, Cochrane Review, and Embase. When possible, authors were contacted for individual genotype data. Meta-analyses of MS case-control data and family-based analyses were performed to assess the association of APOE epsilon genotype with disease risk. Pooled analyses of MS cases were also performed to assess the influence of APOE epsilon genotype on disease severity. Results: A total of 22 studies (3,299 MS cases and 2,532 controls) were available for meta-analysis. No effect of e2 or e4 status on MS risk was observed (summary OR 1.14, 95% CI 0.96–1.34 and OR 0.89, 95% CI 0.78–1.01). Results obtained from analyses of APOE genotypes in 1,279 MS families were also negative ( p = 0.61). Finally, results from pooled analyses of 4,048 MS cases also argue strongly that APOE epsilon status does not distinguish a relapsing-remitting from primary progressive disease course, or influence disease severity, as measured by the Expanded Disability Status Scale and disease duration. Conclusion: Overall, these findings do not support a role for APOE in multiple sclerosis, and underscore the importance of using large sample sizes to detect modest genetic effects, particularly in studies of genotype-phenotype relationships. |
| Databáze: | OpenAIRE |
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