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Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

Momozawa, Yukihide (author)
Fac Vet Med, Univ Liege B34, Liege, Belgium,Grp Interdisciplinaire Genoprote Appliquee GIGA R
Mni, Myriam (author)
Fac Vet Med, Univ Liege B34, Liege, Belgium,Grp Interdisciplinaire Genoprote Appliquee GIGA R
Nakamura, Kayo (author)
Fac Vet Med, Univ Liege B34, Liege, Belgium,Grp Interdisciplinaire Genoprote Appliquee GIGA R
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Coppieters, Wouter (author)
Fac Vet Med, Univ Liege B34, Liege, Belgium,Grp Interdisciplinaire Genoprote Appliquee GIGA R
Almer, Sven (author)
Östergötlands Läns Landsting,Linköpings universitet,Gastroenterologi och hepatologi,Hälsouniversitetet,Endokrin- och magtarmmedicinska kliniken US
Amininejad, Leila (author)
Dept Gastroenterol, Erasme Hosp, Univ Libre Brussels, Brussels, Belgium,University Libre Bruxelles
Cleynen, Isabelle (author)
Dept Pathophysiol, Gastroenterol Sect, Catholic Univ Louvain, Louvain, Belgium,Catholic University Louvain
Colombel, Jean-Frédéric (author)
Registre MICI Nord Quest France EPIMAD, Hop Calmette, Lille, France
de Rijk, Peter (author)
Dept Mol Genet, Univ Antwerp VIB, Antwerp, Belgium,University Antwerp VIB
Dewit, Olivier (author)
Dept Gastroenterol, Clin Univ St Luc, Catholic Univ Louvain, Brussels, Belgium,Catholic University Louvain
Finkel, Yigael (author)
Karolinska Institutet,Karolinska Childrens Hospital
Gassull, Miquel A. (author)
Dept Gastroenterol, Hosp Badalona Germans Trias & Pujol, Badalona, Spain,Hospital Badalona Germans Trias and Pujol
Goossens, Dirk (author)
Dept Mol Genet, Univ Antwerp VIB, Antwerp, Belgium,University Antwerp VIB
Laukens, Debby (author)
Dept Gastroenterol, Univ Hosp, Univ Ghent, Ghent, Belgium,University Ghent
Lémann, Marc (author)
AP HP, Dept Gastroenterol, Hop St Louis, Univ Paris 07, Paris, France,University Paris 07
Libioulle, Cécile (author)
Fac Vet Med, Univ Liege B34, Liege, Belgium,Grp Interdisciplinaire Genoprote Appliquee GIGA R
O'Morain, Colm (author)
Adelaide & Meath Hosp, Dublin, Ireland,Adelaide and Meath Hospital
Reenaers, Catherine (author)
Fac Med, Univ Liege B34, Liege, Belgium,GIGA R
Rutgeerts, Paul (author)
Dept Pathophysiol, Gastroenterol Sect, Catholic Univ Louvain, Louvain, Belgium,Catholic University Louvain
Tysk, Curt (author)
Örebro universitet,Hälsoakademin,Orebro Med Centre Hospital
Zelenika, Diana (author)
Ctr Natl Genotypage, Evry, France,Centre Natl Genotypage, Evry
Lathrop, Mark (author)
Ctr Natl Genotypage, Evry, France,Centre Natl Genotypage, Evry, France
Del-Favero, Jurgen (author)
Dept Mol Genet, Univ Antwerp VIB, Antwerp, Belgium,University Antwerp VIB
Hugot, Jean-Pierre (author)
INSERM, U843, Hop Robert Debre, IParis, France
de Vos, Martine (author)
Dept Gastroenterol,Univ Hosp, Univ Ghent, Ghent, Belgium,University Ghent
Franchimont, Denis (author)
Dept Gastroenterol, Erasme Hosp, Univ Libre Brussels, Brussels, Belgium,University Libre Bruxelles
Vermeire, Severine (author)
Dept Pathophysiol, Gastroenterol Sect, Catholic Univ Louvain, Louvain, Belgium,Catholic University Louvain
Louis, Edouard (author)
Fac Med, Univ Liege B34, Liege, Belgium,GIGA R
Georges, Michel (author)
Fac Med, Univ Liege B34, Liege, Belgium,Grp Interdisciplinaire Genoprote Appliquee GIGA R
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 (creator_code:org_t)
2010-12-12
2011
English.
In: Nature Genetics. - New York : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 43:1, s. 43-47
Related links:
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Genome-wide association studies (GWAS) have identified dozens of risk loci for many complex disorders, including Crohn's disease. However, common disease-associated SNPs explain at most ∼20% of the genetic variance for Crohn's disease. Several factors may account for this unexplained heritability, including rare risk variants not adequately tagged thus far in GWAS. That rare susceptibility variants indeed contribute to variation in multifactorial phenotypes has been demonstrated for colorectal cancer, plasma high-density lipoprotein cholesterol levels, blood pressure, type 1 diabetes, hypertriglyceridemia and, in the case of Crohn's disease, for NOD2 (refs. 14,15). Here we describe the use of high-throughput resequencing of DNA pools to search for rare coding variants influencing susceptibility to Crohn's disease in 63 GWAS-identified positional candidate genes. We identify low frequency coding variants conferring protection against inflammatory bowel disease in IL23R, but we conclude that rare coding variants in positional candidates do not make a large contribution to inherited predisposition to Crohn's disease.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Keyword

Genetik
Genetics
Medicine
Medicin
MEDICINE

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ref (subject category)
art (subject category)

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