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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003812naa a2200361 4500
001oai:gup.ub.gu.se/95607
003SwePub
008240528s2009 | |||||||||||000 ||eng|
009oai:research.chalmers.se:6c9a5f4d-4ea4-4c96-bb15-ab14e9be63cf
024a https://gup.ub.gu.se/publication/956072 URI
024a https://doi.org/10.1097/MPG.0b013e318196c3622 DOI
024a https://research.chalmers.se/publication/956072 URI
040 a (SwePub)gud (SwePub)cth
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
100a Gudjonsdottir, Audur,d 1959u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,University of Gothenburg4 aut0 (Swepub:gu)xgudau
2451 0a Association Between Genotypes and Phenotypes in Coeliac Disease.
264 1c 2009
520 a BACKGROUND:: Coeliac disease (CD) is a genetically driven immunological intolerance to dietary gluten with a wide range of clinical presentations. The aim of this study was to investigate the heritability of the phenotype in CD and the influence on the phenotype of different genes associated with the disease. PATIENTS AND METHODS:: One hundred and seven families with at least 2 siblings with CD were collected. The patients were grouped in symptom grades on the basis of the clinical presentation, the age at diagnosis, and sex. Stratification analyses of the human leucocyte antigen-DQA1 and human leucocyte antigen-DQB1 genotypes, the CTLA4 +49A/G polymorphism, the CTLA4 haplotype MH30*G:-1147*T:+49*A:CT60*G:CT61*A and the 5q31-33 loci were done. RESULTS:: The heritability of the phenotype was estimated to be 0.45. Significant association and linkage was found between the clinical presentation and the CTLA4 +49A/G polymorphism but not for the other genotypes. No correlation was found between genotypes and age at diagnosis or sex. CONCLUSIONS:: Our results indicate that the heritability is determiner of the phenotype in CD. The CTLA4 +49A/G polymorphism is correlated to the clinical presentation: the AA genotype is associated with clinically silent disease.
700a Nilsson, Staffan,d 1956u Gothenburg University,Göteborgs universitet,Institutionen för matematiska vetenskaper, matematisk statistik,Department of Mathematical Sciences, Mathematical Statistics,Chalmers tekniska högskola,Chalmers University of Technology,University of Gothenburg4 aut0 (Swepub:cth)staffan
700a Torinsson Naluai, Åsa,d 1968u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics,University of Gothenburg4 aut0 (Swepub:gu)xnalas
700a Ek, Johan4 aut
700a amundsen, silja4 aut
700a Wahlström, Jan,d 1939u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics,University of Gothenburg4 aut0 (Swepub:gu)xwahja
700a Ascher, Henry,d 1953u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,University of Gothenburg4 aut0 (Swepub:gu)xasche
710a Göteborgs universitetb Institutionen för kliniska vetenskaper4 org
773t Journal of pediatric gastroenterology and nutritiong 49:2, s. 165-169q 49:2<165-169x 1536-4801x 0277-2116
856u http://dx.doi.org/10.1097/MPG.0b013e318196c362y FULLTEXT
8564 8u https://gup.ub.gu.se/publication/95607
8564 8u https://doi.org/10.1097/MPG.0b013e318196c362
8564 8u https://research.chalmers.se/publication/95607

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