CARD15/NOD2 polymorphisms do not explain concordance of Crohn's disease in Swedish monozygotic twins
2005 (English)In: Digestive and Liver Disease, ISSN 1590-8658, E-ISSN 1878-3562, Vol. 37, no 10, 768-772 p.Article in journal (Refereed) Published
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.
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.
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%.
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.
Place, publisher, year, edition, pages
2005. Vol. 37, no 10, 768-772 p.
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:liu:diva-33366DOI: 10.1016/j.dld.2005.05.005Local ID: 19381OAI: oai:DiVA.org:liu-33366DiVA: diva2:254189