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CARD15/NOD2 polymor...
CARD15/NOD2 polymorphisms do not explain concordance of Crohn´s disease in Swedish monozygotic twins
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- Halfvarson, Jonas, 1970- (author)
- Division of Gastroenterology, Department of Internal Medicine, Orebro University Hospital, Orebro, Sweden
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- Bresso, F (author)
- Karolinska Institutet,IRIS Center, Karolinska Institute-MTC, Stockholm, Sweden
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- D ´Amato, M (author)
- Karolinska Institutet,IRIS Center, Karolinska Institute-MTC, Stockholm, Sweden
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- Järnerot, G (author)
- Division of Gastroenterology, Department of Internal Medicine, Örebro University Hospital, Örebro, Sweden
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- Pettersson, S (author)
- Karolinska Institutet,IRIS Center, Karolinska Institute-MTC, Stockholm, Sweden
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- Tysk, C (author)
- Division of Gastroenterology, Department of Internal Medicine, Örebro University Hospital, Örebro, Sweden
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(creator_code:org_t)
- Elsevier BV, 2005
- 2005
- English.
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In: Digestive and Liver Disease. - : Elsevier BV. - 1590-8658 .- 1878-3562. ; 37:10, s. 768-762
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Subject headings
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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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Keyword
- Medicine
- Medicin
- MEDICINE
Publication and Content Type
- ref (subject category)
- art (subject category)
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