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HNF4α and CDH1 are associated with ulcerative colitis in a Dutch cohort.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Sommeren, Suzanne Van Visschedijk, Marijn C. Festen, Eleonora A. M. Jong, Dirk J. De Ponsioen, Cyriel Y. I. Wijmenga, Cisca Weersma, Rinse K. |
| Copyright Year | 2011 |
| Abstract | BACKGROUND Inflammatory bowel diseases (IBDs), consisting of ulcerative colitis (UC) and Crohn's disease (CD), are complex disorders with multiple genes contributing to disease pathogenesis. A recent genome-wide association scan identified three novel susceptibility loci for UC: HNF4α, CDH1, and LAMB1. We performed an analysis of these three loci in an independent cohort. METHODS In all, 821 UC patients and 1260 healthy controls of central European Caucasian descent were genotyped for single nucleotide polymorphisms (SNPs): rs6017342 (HNF4α), rs1728785 (CDH1), and rs6949033 (LAMB1). Differences in allele and genotype distribution in cases and controls were tested for significance with the χ² test. RESULTS Allelic association analysis showed that SNP rs6017342 in the HNF4α locus was strongly associated with UC (P = 1,04 × 10(-11) , odds ratio [OR] = 1.56, 95% confidence interval [CI] = 1.37-1.77) and SNP rs1728785 (CDH1) was associated with P = 0.01 (OR = 1.23, 95% CI = 1.05-1.44). SNP rs6949033 in LAMB1 was not associated in our cohort (P = 0.12, OR = 1.11, 95% CI = 0.97-1.26). We found an association for SNP rs6949033 (LAMB1) for disease limited to the rectum (P = 0.02). However, this association was lost after correcting for multiple testing. No further specific subphenotype associations were identified. CONCLUSIONS This is the first independent study to replicate the HNF4α and CDH1 loci as susceptibility loci for UC. The main candidate genes in these risk loci play important roles in the maintenance of the integrity of the epithelial barrier, highlighting the importance of the mucosal barrier function for UC pathogenesis. |
| Starting Page | 532 |
| Ending Page | 532 |
| Page Count | 1 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://www.icc-ibd.com/upload/files/publicaties/2011-van%20sommeren%20et%20al-IBD.pdf |
| PubMed reference number | 21744425v1 |
| Alternate Webpage(s) | https://doi.org/10.1002/ibd.21541 |
| DOI | 10.1002/ibd.21541 |
| Journal | Inflammatory bowel diseases |
| Volume Number | 17 |
| Issue Number | 8 |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | CDH1 gene Candidate Disease Gene Confidence Intervals Contribution Crohn Disease Genetic Polymorphism Inflammatory Bowel Diseases Intestinal Diseases Intestines LAMB1 gene Mental association Mucous Membrane Nitroprusside Patients Rectum Single Nucleotide Polymorphism Ulcer Ulcerative Colitis |
| Content Type | Text |
| Resource Type | Article |
