Research article
IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease
- † Equal contributors
1 Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
2 Research Program for Molecular Medicine, Biomedicum Helsinki, Finland
3 Department of Dermatology, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland
4 Department of Medicine, University of Helsinki, Helsinki, Finland
5 Department of Reproductive and Development Sciences, University of Trieste and IRCCS "Burlo Garofolo" Children Hospital, Trieste, Italy
6 Heim Pal Children's Hospital, Budapest and University of Debrecen, Budapest, Hungary
7 Paediatric Research Centre, University of Tampere Medical School and Tampere University Hospital, Tampere, Finland
8 Department of Gastroenterology and Alimentary Tract Surgery, Tampere University Hospital and Medical School, University of Tampere, Tampere, Finland
9 Faculty of Public Health, Department of Preventive Medicine, University of Debrecen, Debrecen, Hungary
10 Faculty of Public Health, Department of Epidemiology and Biostatistics, University of Debrecen, Debrecen, Hungary
11 Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland
12 Department of Gastroenterology, Helsinki University Hospital, Helsinki, Finland
13 Department of Transplantation and Liver Surgery, University of Helsinki, Helsinki, Finland
14 Department of Medicine, Karolinska Institutet, Stockholm, Sweden
15 Department of Surgery, Karolinska Institutet, Stockholm, Sweden
16 Department of Internal Medicine, Örebro University Hospital, Örebro, Sweden
17 Karolinska Institutet, Department of Biosciences and Nutrition, Clinical Research Centre, Huddinge, Sweden
BMC Medical Genetics 2009, 10:8 doi:10.1186/1471-2350-10-8
Published: 28 January 2009Additional files
Additional file 1:
Genotyping call rates and HWE. Genotyping success rate and quality of genotypes A) Genotyping call rates for each dataset and IL23R marker. All markers in the Swedish IBD dataset showed a call rate of over 95%, all markers in the Finnish psoriasis dataset had a call rate over 96%, and all markers in the celiac materials had a call rate of over 92%. B) Conformity to the Hardy-Weinberg equilibrium (HWE) in our datasets for each IL23R marker. Some of the markers showed borderline significant deviation (p = 0.01–0.05) from HWE (underlined), but no marker had a HWE p-value less than 0.05 in more than one dataset, so all markers were used for the association analysis.
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Additional file 2:
LD patterns of IL23R. LD patterns of the region around the IL23R gene in the CEU population (from Hapmap build 36 http://www.hapmap.org webcite). 67400 K to 67640 K of chromosome 1 is shown. Dark colour indicates high LD; lighter colour indicates less LD. The position of the eight SNP markers analysed in this study is shown.
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Additional file 3:
Supplementary single-marker association results. Association to single markers in the IL23R region. The table shows the sample size of each dataset, the genotype counts and frequency of both SNP alleles in cases and controls in each marker, as well as p-values, odds ratios (OR) and the 95% confidence intervals for the odds-ratios (CI). Association to inflammatory bowel disease (IBD), psoriasis (PSOR) and celiac disease (CEL) in cohorts from Sweden (SWE), Finland (FIN), Hungary (HUN) and Italy (ITA). Statistically significant p-values (p < 0.05) are highlighted in bold; p-values lower than 10-3 are highlighted in bold and underlined.
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Additional file 4:
Haplotype association of IL23R to IBD and celiac disease. Association of IL23R haplotypes to inflammatory bowel disease (IBD), psoriasis (PSOR) and celiac disease (CEL) in cohorts from Sweden (SWE), Finland (FIN), Hungary (HUN) and Italy (ITA). Association to ulcerative colitis [UC] and Crohn's disease [CD] in the Swedish IBD material (A); to celiac disease in the Finnish, Hungarian and Italian populations (B); and to psoriasis in the Finnish population (C). OR refers to odds ratios, 95% CI to the OR 95% confidence interval. Statistically significant p-values (p < 0.05) are highlighted in bold.
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