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  • Bronson, P. G. (author)

Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency

  • Article/chapterEnglish2016

Publisher, publication year, extent ...

  • 2016-10-10
  • Springer Science and Business Media LLC,2016

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/246214
  • https://gup.ub.gu.se/publication/246214URI
  • https://doi.org/10.1038/ng.3675DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:134512533URI

Supplementary language notes

  • Language:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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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Added entries (persons, corporate bodies, meetings, titles ...)

  • Chang, D. (author)
  • Bhangale, T. (author)
  • Seldin, M. F. (author)
  • Ortmannl, W. (author)
  • Ferreira, R. C. (author)
  • Urcelay, E. (author)
  • Pereira, L. F. (author)
  • Martin, J. (author)
  • Plebani, A. (author)
  • Lougaris, V. (author)
  • Friman, Vanda,1952Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för infektionssjukdomar,Institute of Biomedicine, Department of Infectious Medicine(Swepub:gu)xfriva (author)
  • Freiberger, T. (author)
  • Litzman, J. (author)
  • Thon, V. (author)
  • Pan-Hammarstrom, Q.Karolinska Institutet (author)
  • Hammarstrom, L.Karolinska Institutet (author)
  • Graham, R. R. (author)
  • Behrens, T. W. (author)
  • Göteborgs universitetInstitutionen för biomedicin, avdelningen för infektionssjukdomar (creator_code:org_t)

Related titles

  • In:Nature Genetics: Springer Science and Business Media LLC48:11, s. 1425-14291061-40361546-1718

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