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International Multiple Sclerosis Genetics Consortium (Winkelmann, J. ; Wichmann, H.-E.)

The genetic association of variants in CD6, TNFRSF1A and IRF8 to multiple sclerosis: A multicenter case-control study.

PLoS ONE 6:e18813 (2011)
Verlagsversion Volltext DOI PMC
Open Access Gold
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BACKGROUND: In the recently published meta-analysis of multiple sclerosis genome-wide association studies De Jager et al. identified three single nucleotide polymorphisms associated to MS: rs17824933 (CD6), rs1800693 (TNFRSF1A) and rs17445836 (61.5 kb from IRF8). To refine our understanding of these associations we sought to replicate these findings in a large more extensive independent sample set of 11 populations of European origin. PRINCIPAL FINDINGS: We calculated individual and combined associations using a meta-analysis method by Kazeem and Farral (2005). We confirmed the association of rs1800693 in TNFRSF1A (p 4.19 × 10-7, OR 1.12, 7,665 cases, 8,051 controls) and rs17445836 near IRF8 (p 5.35 × 10-10, OR 0.84, 6,895 cases, 7,580 controls and 596 case-parent trios) The SNP rs17824933 in CD6 also showed nominally significant evidence for association (p 2.19 × 10-5, OR 1.11, 8,047 cases, 9,174 controls, 604 case-parent trios). CONCLUSIONS: Variants in TNFRSF1A and in the vicinity of IRF8 were confirmed to be associated in these independent cohorts, which supports the role of these loci in etiology of multiple sclerosis. The variant in CD6 reached genome-wide significance after combining the data with the original meta-analysis. Fine mapping is required to identify the predisposing variants in the loci and future functional studies will refine their molecular role in MS pathogenesis.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; PERIODIC-SYNDROME; MUTATION; IMMUNODEFICIENCY; EXPRESSION; APOPTOSIS; DISEASES; REVEALS; EUROPE
Sprache englisch
Veröffentlichungsjahr 2011
HGF-Berichtsjahr 2011
ISSN (print) / ISBN 1932-6203
Zeitschrift PLoS ONE
Quellenangaben Band: 6, Heft: 4, Seiten: , Artikelnummer: e18813 Supplement: ,
Verlag Public Library of Science (PLoS)
Verlagsort Lawrence, Kan.
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)
Institute of Epidemiology (EPI)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30503 - Chronic Diseases of the Lung and Allergies
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500700-001
G-503900-001
PubMed ID 21552549
DOI 10.1371/journal.pone.0018813
WOS ID 000290020700003
Scopus ID 79960334826
Erfassungsdatum 2011-09-12
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