title: Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases.
abstract: Inflammatory bowel diseases (IBDs), including Crohn's disease (CD) and ulcerative colitis (UC), are multifactorial disorders that result from a dysregulated inflammatory response to environmental factors in genetically predisposed individuals. Recently, microRNAs (miRNAs) have been shown to be involved in the development of IBDs.
  
  
  
  We investigated common variants in five miRNA genes in a cohort of Italian IBD patients, to evaluate their possible role in the disease's susceptibility and phenotype manifestations.
  
  
  
  The analysis included 267 CD patients, 207 UC patients, and 298 matched healthy controls. Polymorphisms in the MIR122, MIR499, MIR146A, MIR196A2, and MIR124A genes were evaluated by allelic discrimination assay.
  
  
  
  We did not find associations between mir polymorphisms and IBD susceptibility. In both diseases, rs17669 and rs11614913 (MIR122 and MIR196A2) seem to contribute to clinical phenotypes: ileal location in CD (odds ratio [OR] = 1.82, p = 0.03; OR = 0.51, p = 0.01), and left-sided extent in UC (OR = 0.43, p = 0.05; OR = 0.28, p = 0.002). In CD, the MIR124A polymorphism (rs531564) contributed to colon location (p = 0.03, OR = 2.74). Finally, the variant allele of rs11614913 was associated with early age at onset in both diseases (p = 0.05 and p = 0.02).
  
  
  
  We showed for the first time that polymorphisms in MIR122, MIR196A2, and MIR124A could play a role in clinical phenotype modulation in IBD.
authors.affiliation: Department of Biomedicine and Prevention, Genetics Section, University of Rome "Tor Vergata", 00133, Rome, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Ciccacci
authors.affiliation: Department of Biomedicine and Prevention, Genetics Section, University of Rome "Tor Vergata", 00133, Rome, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Politi
authors.affiliation: Gastroenterology Unit, Department of Systems Medicine, University of Rome "Tor Vergata", Rome, Italy.
authors.forename: Livia
authors.initials: L
authors.lastname: Biancone
authors.affiliation: Department of Biomedicine and Prevention, Genetics Section, University of Rome "Tor Vergata", 00133, Rome, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Latini
authors.affiliation: Department of Biomedicine and Prevention, Genetics Section, University of Rome "Tor Vergata", 00133, Rome, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
authors.affiliation: Gastroenterology Unit, Department of Systems Medicine, University of Rome "Tor Vergata", Rome, Italy.
authors.forename: Emma
authors.initials: E
authors.lastname: Calabrese
authors.affiliation: Department of Biomedicine and Prevention, Genetics Section, University of Rome "Tor Vergata", 00133, Rome, Italy. borgiani@med.uniroma2.it.
authors.forename: Paola
authors.initials: P
authors.lastname: Borgiani
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D003093:Colitis, Ulcerative / Q000175:diagnosis / Q000235:genetics*; D003424:Crohn Disease / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D035683:MicroRNAs / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D012189:Retrospective Studies; D044465:White People / Q000235:genetics; D055815:Young Adult
chemical_list: C531907:MIRN122 microRNA, human; C509207:MIRN124 microRNA, human; C542543:MIRN196 microRNA, human; D035683:MicroRNAs