CARD15/NOD2 polymorphisms do not explain concordance of Crohn´s disease in Swedish monozygotic twins

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Fältnamn	Indikatorer	Metadata
000		03905naa a2200445 4500
001		oai:DiVA.org:oru-27391
003		SwePub
008		130206s2005 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:1953034
009		oai:DiVA.org:liu-33366
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-273912 URI
024	7	a https://doi.org/10.1016/j.dld.2005.05.0052 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:19530342 URI
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-333662 URI
040		a (SwePub)orud (SwePub)kid (SwePub)liu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Halfvarson, Jonas,d 1970-u Division of Gastroenterology, Department of Internal Medicine, Orebro University Hospital, Orebro, Sweden4 aut0 (Swepub:liu)jonha40
245	1 0	a CARD15/NOD2 polymorphisms do not explain concordance of Crohn´s disease in Swedish monozygotic twins
264	1	b Elsevier BV,c 2005
338		a print2 rdacarrier
520		a 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.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicin0 (SwePub)3022 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicine0 (SwePub)3022 hsv//eng
653		a Medicine
653		a Medicin
653		a MEDICINE
700	1	a Bresso, Fu Karolinska Institutet,IRIS Center, Karolinska Institute-MTC, Stockholm, Sweden4 aut
700	1	a D ´Amato, Mu Karolinska Institutet,IRIS Center, Karolinska Institute-MTC, Stockholm, Sweden4 aut
700	1	a Järnerot, Gu Division of Gastroenterology, Department of Internal Medicine, Örebro University Hospital, Örebro, Sweden4 aut
700	1	a Pettersson, Su Karolinska Institutet,IRIS Center, Karolinska Institute-MTC, Stockholm, Sweden4 aut
700	1	a Tysk, Cu Division of Gastroenterology, Department of Internal Medicine, Örebro University Hospital, Örebro, Sweden4 aut
710	2	a Karolinska Institutetb Division of Gastroenterology, Department of Internal Medicine, Orebro University Hospital, Orebro, Sweden4 org
773	0	t Digestive and Liver Diseased : Elsevier BVg 37:10, s. 768-762q 37:10<768-762x 1590-8658x 1878-3562
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-27391
856	4 8	u https://doi.org/10.1016/j.dld.2005.05.005
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:1953034
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-33366

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Av författaren/redakt...: Halfvarson, Jona ...; Bresso, F; D ´Amato, M; Järnerot, G; Pettersson, S; Tysk, C

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MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin

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Av lärosätet: Örebro universitet; Karolinska Institutet; Linköpings universitet

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