Associations between genetic polymorphisms in IL-33, IL1R1 and risk for inflammatory bowel disease.
<h4>Background</h4>Recent evidence suggests that the IL-33/IL1RL1 axis plays a critical role in several autoimmune and inflammatory disorders; however, its mechanistic role in inflammatory bowel disease (IBD) has not been clearly defined. We investigated the contribution of IL-33 and IL1...
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2013
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oai:doaj.org-article:97b394e162be4ca980276b6f5bf043802021-11-18T07:47:52ZAssociations between genetic polymorphisms in IL-33, IL1R1 and risk for inflammatory bowel disease.1932-620310.1371/journal.pone.0062144https://doaj.org/article/97b394e162be4ca980276b6f5bf043802013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23634226/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Recent evidence suggests that the IL-33/IL1RL1 axis plays a critical role in several autoimmune and inflammatory disorders; however, its mechanistic role in inflammatory bowel disease (IBD) has not been clearly defined. We investigated the contribution of IL-33 and IL1RL1 polymorphisms to IBD risk, and possible correlations with phenotype in an Italian cohort of adult and pediatric patients.<h4>Methods</h4>We evaluated the association of six SNPs in IL-33 and IL1RL1 genes, in 805 Crohn's disease (CD), 816 ulcerative colitis (UC), and 752 controls, using Taqman. IL-33 and IL1RL1 mRNA expression was also analyzed.<h4>Results</h4>Significant allele and genotype associations with IL-33 rs3939286 were found in CD (P = 0.004; P = 0.035) and UC patients (P = 0.002; P = 0.038). After stratifying the cohort for age at diagnosis, the differences remained significant only in the IBD adult-onset. Significant associations were also obtained in CD patients with two IL1RL1 polymorphisms (rs13015714 and rs2058660, P<0.015). By combining homo- and heterozygous carriers of the rs13015714 risk allele, differences were still significant for both CD adult- and pediatric-onset. Upon genotype-phenotype evaluation, an increased frequency of extensive colitis in adult UC (P = 0.019) and in steroid-responsive pediatric patients (P = 0.024) carrying the IL-33 rs3939286 risk genotype, was observed. mRNA expression of IL-33 and IL1RL1 in inflamed IBD biopsy samples was significantly increased.<h4>Conclusions</h4>Common IL-33 and IL1RL1 polymorphisms contribute to the risk of IBD in an Italian cohort of adult and pediatric patients, with some influence on sub-phenotypes.Anna LatianoOrazio PalmieriLuca PastorelliMaurizio VecchiTheresa T PizarroFabrizio BossaGiuseppe MerlaBartolomeo AugelloTiziana LatianoGiuseppe CorritoreAlessia SettesoldiMaria Rosa ValvanoRenata D'IncàLaura StronatiVito AnneseAngelo AndriulliPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 4, p e62144 (2013) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q Anna Latiano Orazio Palmieri Luca Pastorelli Maurizio Vecchi Theresa T Pizarro Fabrizio Bossa Giuseppe Merla Bartolomeo Augello Tiziana Latiano Giuseppe Corritore Alessia Settesoldi Maria Rosa Valvano Renata D'Incà Laura Stronati Vito Annese Angelo Andriulli Associations between genetic polymorphisms in IL-33, IL1R1 and risk for inflammatory bowel disease. |
| description |
<h4>Background</h4>Recent evidence suggests that the IL-33/IL1RL1 axis plays a critical role in several autoimmune and inflammatory disorders; however, its mechanistic role in inflammatory bowel disease (IBD) has not been clearly defined. We investigated the contribution of IL-33 and IL1RL1 polymorphisms to IBD risk, and possible correlations with phenotype in an Italian cohort of adult and pediatric patients.<h4>Methods</h4>We evaluated the association of six SNPs in IL-33 and IL1RL1 genes, in 805 Crohn's disease (CD), 816 ulcerative colitis (UC), and 752 controls, using Taqman. IL-33 and IL1RL1 mRNA expression was also analyzed.<h4>Results</h4>Significant allele and genotype associations with IL-33 rs3939286 were found in CD (P = 0.004; P = 0.035) and UC patients (P = 0.002; P = 0.038). After stratifying the cohort for age at diagnosis, the differences remained significant only in the IBD adult-onset. Significant associations were also obtained in CD patients with two IL1RL1 polymorphisms (rs13015714 and rs2058660, P<0.015). By combining homo- and heterozygous carriers of the rs13015714 risk allele, differences were still significant for both CD adult- and pediatric-onset. Upon genotype-phenotype evaluation, an increased frequency of extensive colitis in adult UC (P = 0.019) and in steroid-responsive pediatric patients (P = 0.024) carrying the IL-33 rs3939286 risk genotype, was observed. mRNA expression of IL-33 and IL1RL1 in inflamed IBD biopsy samples was significantly increased.<h4>Conclusions</h4>Common IL-33 and IL1RL1 polymorphisms contribute to the risk of IBD in an Italian cohort of adult and pediatric patients, with some influence on sub-phenotypes. |
| format |
article |
| author |
Anna Latiano Orazio Palmieri Luca Pastorelli Maurizio Vecchi Theresa T Pizarro Fabrizio Bossa Giuseppe Merla Bartolomeo Augello Tiziana Latiano Giuseppe Corritore Alessia Settesoldi Maria Rosa Valvano Renata D'Incà Laura Stronati Vito Annese Angelo Andriulli |
| author_facet |
Anna Latiano Orazio Palmieri Luca Pastorelli Maurizio Vecchi Theresa T Pizarro Fabrizio Bossa Giuseppe Merla Bartolomeo Augello Tiziana Latiano Giuseppe Corritore Alessia Settesoldi Maria Rosa Valvano Renata D'Incà Laura Stronati Vito Annese Angelo Andriulli |
| author_sort |
Anna Latiano |
| title |
Associations between genetic polymorphisms in IL-33, IL1R1 and risk for inflammatory bowel disease. |
| title_short |
Associations between genetic polymorphisms in IL-33, IL1R1 and risk for inflammatory bowel disease. |
| title_full |
Associations between genetic polymorphisms in IL-33, IL1R1 and risk for inflammatory bowel disease. |
| title_fullStr |
Associations between genetic polymorphisms in IL-33, IL1R1 and risk for inflammatory bowel disease. |
| title_full_unstemmed |
Associations between genetic polymorphisms in IL-33, IL1R1 and risk for inflammatory bowel disease. |
| title_sort |
associations between genetic polymorphisms in il-33, il1r1 and risk for inflammatory bowel disease. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2013 |
| url |
https://doaj.org/article/97b394e162be4ca980276b6f5bf04380 |
| work_keys_str_mv |
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