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1. rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.

Author

Jürgen Glas, Julia Seiderer, Martin Wetzke, Astrid Konrad, Helga-Paula Török, Silke Schmechel, Laurian Tonenchi, Christine Grassl, Julia Dambacher, Simone Pfennig, Kerstin Maier, Thomas Griga, Wolfram Klein, Jörg T Epplen, Uwe Schiemann, Christian Folwaczny, Peter Lohse, Burkhard Göke, Thomas Ochsenkühn, Bertram Müller-Myhsok, Matthias Folwaczny, Thomas Mussack, and Stephan Brand

Subjects
Medicine, Science
Abstract

BACKGROUND: The IL23R gene has been identified as a susceptibility gene for inflammatory bowel disease (IBD) in the North American population. The aim of our study was to test this association in a large German IBD cohort and to elucidate potential interactions with other IBD genes as well as phenotypic consequences of IL23R variants. METHODS: Genomic DNA from 2670 Caucasian individuals including 833 patients with Crohn's disease (CD), 456 patients with ulcerative colitis (UC), and 1381 healthy unrelated controls was analyzed for 10 IL23R SNPs. Genotyping included the NOD2 variants p.Arg702Trp, p.Gly908Arg, and p.Leu1007fsX1008 and polymorphisms in SLC22A4/OCTN1 (1672 C-->T) and SLC22A5/OCTN2 (-207 G-->C). RESULTS: All IL23R gene variants analyzed displayed highly significant associations with CD. The strongest association was found for the SNP rs1004819 [P = 1.92x10(-11); OR 1.56; 95 % CI (1.37-1.78)]. 93.2% of the rs1004819 TT homozygous carriers as compared to 78% of CC wildtype carriers had ileal involvement [P = 0.004; OR 4.24; CI (1.46-12.34)]. The coding SNP rs11209026 (p.Arg381Gln) was protective for CD [P = 8.04x10(-8); OR 0.43; CI (0.31-0.59)]. Similar, but weaker associations were found in UC. There was no evidence for epistasis between the IL23R gene and the CD susceptibility genes CARD15 and SLC22A4/5. CONCLUSION: IL23R is an IBD susceptibility gene, but has no epistatic interaction with CARD15 and SLC22A4/5. rs1004819 is the major IL23R variant associated with CD in the German population, while the p.Arg381Gln IL23R variant is a protective marker for CD and UC.

Published
2007
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2. rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants

Author

Stephan Brand, Helga-Paula Török, Julia Seiderer, Christine Grassl, Martin Wetzke, Kerstin C. Maier, Jürgen Glas, Simone Pfennig, Thomas Mussack, Uwe Schiemann, Bertram Müller-Myhsok, Julia Dambacher, Wolfram Klein, Astrid Konrad, Jörg T. Epplen, Christian Folwaczny, Thomas Ochsenkühn, Thomas Griga, Laurian Tonenchi, Peter Lohse, Matthias Folwaczny, Burkhard Göke, and Silke Schmechel

Subjects
Male, Interleukin-23 receptor, Immunology/Innate Immunity, Nod2 Signaling Adaptor Protein, lcsh:Medicine, Genome-wide association study, Inflammatory bowel disease, Crohn Disease, Gene Frequency, Germany, NOD2, Child, lcsh:Science, Genetics and Genomics/Genetics of Disease, Aged, 80 and over, Multidisciplinary, Symporters, Middle Aged, Phenotype, Female, Genetics and Genomics/Genetics of the Immune System, Research Article, Adult, musculoskeletal diseases, Adolescent, Organic Cation Transport Proteins, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Young Adult, medicine, Humans, SNP, Genetic Predisposition to Disease, Solute Carrier Family 22 Member 5, Allele frequency, Aged, Demography, Gastroenterology and Hepatology/Inflammatory Bowel Disease, lcsh:R, Case-control study, Epistasis, Genetic, Receptors, Interleukin, medicine.disease, digestive system diseases, Case-Control Studies, Immunology/Immune Response, Immunology, lcsh:Q, Immunology/Genetics of the Immune System
Abstract

BACKGROUND: The IL23R gene has been identified as a susceptibility gene for inflammatory bowel disease (IBD) in the North American population. The aim of our study was to test this association in a large German IBD cohort and to elucidate potential interactions with other IBD genes as well as phenotypic consequences of IL23R variants. METHODS: Genomic DNA from 2670 Caucasian individuals including 833 patients with Crohn's disease (CD), 456 patients with ulcerative colitis (UC), and 1381 healthy unrelated controls was analyzed for 10 IL23R SNPs. Genotyping included the NOD2 variants p.Arg702Trp, p.Gly908Arg, and p.Leu1007fsX1008 and polymorphisms in SLC22A4/OCTN1 (1672 C-->T) and SLC22A5/OCTN2 (-207 G-->C). RESULTS: All IL23R gene variants analyzed displayed highly significant associations with CD. The strongest association was found for the SNP rs1004819 [P = 1.92x10(-11); OR 1.56; 95 % CI (1.37-1.78)]. 93.2% of the rs1004819 TT homozygous carriers as compared to 78% of CC wildtype carriers had ileal involvement [P = 0.004; OR 4.24; CI (1.46-12.34)]. The coding SNP rs11209026 (p.Arg381Gln) was protective for CD [P = 8.04x10(-8); OR 0.43; CI (0.31-0.59)]. Similar, but weaker associations were found in UC. There was no evidence for epistasis between the IL23R gene and the CD susceptibility genes CARD15 and SLC22A4/5. CONCLUSION: IL23R is an IBD susceptibility gene, but has no epistatic interaction with CARD15 and SLC22A4/5. rs1004819 is the major IL23R variant associated with CD in the German population, while the p.Arg381Gln IL23R variant is a protective marker for CD and UC.

Published
2007

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