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  • Rivas, Manuel A. (author)

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

  • Article/chapterEnglish2011

Publisher, publication year, extent ...

  • 2011-10-09
  • Springer Science and Business Media LLC,2011
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:oru-20836
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-20836URI
  • https://doi.org/10.1038/ng.952DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:123530963URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

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

Notes

  • More than 1,000 susceptibility loci have been identified through genome-wide association studies (GWAS) of common variants; however, the specific genes and full allelic spectrum of causal variants underlying these findings have not yet been defined. Here we used pooled next-generation sequencing to study 56 genes from regions associated with Crohn's disease in 350 cases and 350 controls. Through follow-up genotyping of 70 rare and low-frequency protein-altering variants in nine independent case-control series (16,054 Crohn's disease cases, 12,153 ulcerative colitis cases and 17,575 healthy controls), we identified four additional independent risk factors in NOD2, two additional protective variants in IL23R, a highly significant association with a protective splice variant in CARD9 (P < 1 x 10(-16), odds ratio approximate to 0.29) and additional associations with coding variants in IL18RAP, CUL2, C1orf106, PTPN22 and MUC19. We extend the results of successful GWAS by identifying new, rare and probably functional variants that could aid functional experiments and predictive models.

Subject headings and genre

  • Medicine
  • Medicin

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

  • Beaudoin, Melissa (author)
  • Gardet, Agnes (author)
  • Stevens, Christine (author)
  • Sharma, Yashoda (author)
  • Zhang, Clarence K. (author)
  • Boucher, Gabrielle (author)
  • Ripke, Stephan (author)
  • Ellinghaus, David (author)
  • Burtt, Noel (author)
  • Fennell, Tim (author)
  • Kirby, Andrew (author)
  • Latiano, Anna (author)
  • Goyette, Philippe (author)
  • Green, Todd (author)
  • Halfvarson, JonasÖrebro universitet,Hälsoakademin(Swepub:oru)jshn (author)
  • Haritunians, Talin (author)
  • Korn, Joshua M. (author)
  • Kuruvilla, Finny (author)
  • Lagace, Caroline (author)
  • Neale, Benjamin (author)
  • Lo, Ken Sin (author)
  • Schumm, Phil (author)
  • Torkvist, LeifKarolinska Institutet (author)
  • Dubinsky, Marla C. (author)
  • Brant, Steven R. (author)
  • Silverberg, Mark S. (author)
  • Duerr, Richard H. (author)
  • Altshuler, David (author)
  • Gabriel, Stacey (author)
  • Lettre, Guillaume (author)
  • Franke, Andre (author)
  • D'Amato, MauroKarolinska Institutet (author)
  • McGovern, Dermot P. B. (author)
  • Cho, Judy H. (author)
  • Rioux, John D. (author)
  • Xavier, Ramnik J. (author)
  • Daly, Mark J. (author)
  • Örebro universitetHälsoakademin (creator_code:org_t)

Related titles

  • In:Nature Genetics: Springer Science and Business Media LLC43:11, s. 1066-U501061-40361546-1718

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