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CARD15/NOD2 polymor...
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Halfvarson, Jonas,1970-Division of Gastroenterology, Department of Internal Medicine, Orebro University Hospital, Orebro, Sweden
(författare)
CARD15/NOD2 polymorphisms do not explain concordance of Crohn´s disease in Swedish monozygotic twins
- Artikel/kapitelEngelska2005
Förlag, utgivningsår, omfång ...
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Elsevier BV,2005
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LIBRIS-ID:oai:DiVA.org:oru-27391
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https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-27391URI
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https://doi.org/10.1016/j.dld.2005.05.005DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:1953034URI
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https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-33366URI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
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BACKGROUND: CARD15/NOD2 polymorphisms are associated with Crohn's disease. There is a high concordance for disease and disease phenotype in monozygotic twin pairs with Crohn's disease.AIM: We studied CARD15/NOD2 polymorphisms in a Swedish, population-based cohort of monozygotic twins with Crohn's disease to assess whether these variants explain disease concordance.SUBJECTS AND METHODS: Twenty-nine monozygotic twin pairs (concordant n=9, discordant n=20) with Crohn's disease and 192 healthy controls were investigated for the CARD15/NOD2 variants Arg702Trp, Gly908Arg and Leu1007fsinsC.RESULTS: CARD15/NOD2 mutations were found in 5/38 (13%) twins with Crohn's disease, corresponding to a total allele frequency of 6.6%. Only 2/9 concordant twin pairs carried any of the variants and the remaining seven were wild type genotype. The total allele frequency was 4.4 times higher (95% confidence interval 1.0-21.5, p=0.06) in concordant twins than in discordant ones, 11.1% versus 2.5%. In healthy controls the total allele frequency was 2.6%.CONCLUSIONS: CARD15/NOD2 polymorphisms contribute but do not alone explain concordance of Crohn's disease in monozygotic twins and, at least in a Swedish population, other polymorphisms are required. The low occurrence of CARD15/NOD2 mutations in the study and other Northern European populations suggests that these variants are of less importance in Northern Europe.
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Biuppslag (personer, institutioner, konferenser, titlar ...)
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Bresso, FKarolinska Institutet,IRIS Center, Karolinska Institute-MTC, Stockholm, Sweden
(författare)
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D ´Amato, MKarolinska Institutet,IRIS Center, Karolinska Institute-MTC, Stockholm, Sweden
(författare)
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Järnerot, GDivision of Gastroenterology, Department of Internal Medicine, Örebro University Hospital, Örebro, Sweden
(författare)
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Pettersson, SKarolinska Institutet,IRIS Center, Karolinska Institute-MTC, Stockholm, Sweden
(författare)
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Tysk, CDivision of Gastroenterology, Department of Internal Medicine, Örebro University Hospital, Örebro, Sweden
(författare)
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Karolinska InstitutetDivision of Gastroenterology, Department of Internal Medicine, Orebro University Hospital, Orebro, Sweden
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Digestive and Liver Disease: Elsevier BV37:10, s. 768-7621590-86581878-3562
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