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Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency
- Article/chapterEnglish2016
Publisher, publication year, extent ...
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2016-10-10
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Springer Science and Business Media LLC,2016
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LIBRIS-ID:oai:gup.ub.gu.se/246214
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https://gup.ub.gu.se/publication/246214URI
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https://doi.org/10.1038/ng.3675DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:134512533URI
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
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Selective immunoglobulin A deficiency (IgAD) is the most common p rimary immunodeficiency in Europeans. Our genome-wide association study (GWAS) meta-analysis of 1,635 patients with IgAD and 4,852 controls identified four new significant (P < 5 x 10(-8)) loci and association with a rare IFIH1 variant (p.11e923Val). Peak new variants (PVT1, P = 4.3 x 10(-11); ATG13-AMBRA1, P = 6.7 x 10(-10); AHI1, P = 8.4 x 10(-10); CLEC16A, P = 1.4 x 10(-9)) overlapped with autoimmune markers (3/4) and correlated with 21 putative regulatory variants, including expression quantitative trait loci (eQTLs) for AHI1 and DEXI and DNase hypersensitivity sites in FOXP3(+) regulatory T cells. Pathway analysis of the meta-analysis results showed striking association with the KEGG pathway for IgA production (pathway P < 0.0001), with 22 of the 30 annotated pathway genes containing at least one variant with P <= 0.05 in the IgAD meta-analysis. These data suggest that a complex network of genetic effects, including genes known to influence the biology of IgA production, contributes to IgAD.
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Chang, D.
(author)
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Bhangale, T.
(author)
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Seldin, M. F.
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Ortmannl, W.
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Ferreira, R. C.
(author)
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Urcelay, E.
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Pereira, L. F.
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Martin, J.
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Plebani, A.
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Lougaris, V.
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Friman, Vanda,1952Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för infektionssjukdomar,Institute of Biomedicine, Department of Infectious Medicine(Swepub:gu)xfriva
(author)
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Freiberger, T.
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Litzman, J.
(author)
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Thon, V.
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Pan-Hammarstrom, Q.Karolinska Institutet
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Hammarstrom, L.Karolinska Institutet
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Graham, R. R.
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Behrens, T. W.
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Göteborgs universitetInstitutionen för biomedicin, avdelningen för infektionssjukdomar
(creator_code:org_t)
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In:Nature Genetics: Springer Science and Business Media LLC48:11, s. 1425-14291061-40361546-1718
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Bronson, P. G.
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Chang, D.
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Bhangale, T.
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Seldin, M. F.
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Ortmannl, W.
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Ferreira, R. C.
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Urcelay, E.
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Pereira, L. F.
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Martin, J.
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Plebani, A.
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Lougaris, V.
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Friman, Vanda, 1 ...
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Freiberger, T.
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Litzman, J.
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Thon, V.
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Pan-Hammarstrom, ...
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Hammarstrom, L.
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Graham, R. R.
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Behrens, T. W.
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Immunology
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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Nature Genetics
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University of Gothenburg
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Karolinska Institutet