IL23R in the Swedish, Finnish, Hungarian and Italian populations: Association with IBD and psoriasis, and linkage to celiac disease

Elisabet Einarsdottir, Lotta L.E. Koskinen, Emma Dukes, Kati Kainu, Sari Suomela, Maarit Lappalainen, Fabiana Ziberna, Ilma R. Korponay-Szabo, Kalle Kurppa, Katri Kaukinen, Róza Ádány, Zsuzsa Pocsai, György Széles, Martti Färkkilä, Ulla Turunen, Leena Halme, Paulina Paavola-Sakki, Tarcisio Not, Serena Vatta, Alessandro VenturaRobert Löfberg, Leif Torkvist, Francesca Bresso, Jonas Halfvarson, Markku Mäki, Kimmo Kontula, Ulpu Saarialho-Kere, Juha Kere, Mauro D'Amato, Päivi Saavalainen

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Abstract

Background: Association of the interleukin-23 receptor (IL23R) with inflammatory bowel disease (IBD) has been confirmed in several populations. IL23R also associates with psoriasis, suggesting that the gene may be an important candidate for many chronic inflammatory diseases. Methods: We studied association of single-nucleotide variants in IL23R with IBD in Swedish patients, in both Crohn's disease (CD) and ulcerative colitis (UC) subsets. The same genetic variants were also studied in Finnish patients with psoriasis or celiac disease, and in Hungarian and Italian patients with celiac disease. Results: Association of IL23R with IBD was replicated in our Swedish patients, and linkage and association of the IL23R region with psoriasis was found in the Finnish population. The IL23R region was also linked to celiac disease in Finnish families, but no association of IL23R variants with celiac disease was found in the Finnish, Hungarian or Italian samples. Conclusion: Our study is the first to demonstrate association of IL23R with CD and UC in Swedish patients with IBD. It is also the first study to report linkage and association of the IL23R region with psoriasis in the Finnish population. Importantly, this is the first report of linkage of the IL23R region to celiac disease, a chronic inflammatory condition in which IL23R has not been previously implicated.

Original languageEnglish
Article number8
JournalBMC Medical Genetics
Volume10
DOIs
Publication statusPublished - Jan 28 2009

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Einarsdottir, E., Koskinen, L. L. E., Dukes, E., Kainu, K., Suomela, S., Lappalainen, M., Ziberna, F., Korponay-Szabo, I. R., Kurppa, K., Kaukinen, K., Ádány, R., Pocsai, Z., Széles, G., Färkkilä, M., Turunen, U., Halme, L., Paavola-Sakki, P., Not, T., Vatta, S., ... Saavalainen, P. (2009). IL23R in the Swedish, Finnish, Hungarian and Italian populations: Association with IBD and psoriasis, and linkage to celiac disease. BMC Medical Genetics, 10, [8]. https://doi.org/10.1186/1471-2350-10-8