title: IL-23R Arg381Gln polymorphism in Chilean patients with inflammatory bowel disease.
abstract: Crohn's disease (CD) and ulcerative colitis (UC) are multifactorial diseases with a genetic background. Recent results have shown that a non-synonymous, single nucleotide polymorphism (rs11209026, c.1142G>A, p.Arg381Gln) located in the IL-23R gene is associated with inflammatory bowel disease (IBD). The prevalence of IBD is rapidly rising in Chile and there is no information about the frequency of this polymorphism in the Chilean population.
  
  
  OBJECTIVE
  To assess the distribution of DNA variants in the IL-23R gene in Chilean patients with IBD.
  
  
  METHODS
  We studied 100 IBD patients (38 CD and 62 UC) and 59 healthy controls. IL-23R Arg381Gln (G1142A) was genotyped by the polymerase chain reaction and restriction fragment length polymorphism assay. Clinical and demographic features were characterized.
  
  
  RESULTS
  The IL-23R genetic variant did not have an association with IBD in Chilean patients. This polymorphism was present in 5.2% of the control group and 5% of IBD patients (7.9% for CD and 3.2% for UC) (p > 0.05).
  
  
  CONCLUSIONS
  These results suggest that the IL-23R Arg381Gln seems not to be involved in the genetic predisposition to IBD in a Chilean population, and confirms that there are ethnic differences in the genetic background of IBD. Replication studies by independent groups are necessary to elucidate the contribution of susceptibility genes to IBD in different ethnic populations.
authors.affiliation: Department of Medicine, Gastroenterology, Hospital Clínico, Universidad de Chile, Santiago, Chile.
authors.forename: Mauricio
authors.initials: M
authors.lastname: Venegas
authors.forename: Caroll J
authors.initials: CJ
authors.lastname: Beltrán
authors.forename: Luis
authors.initials: L
authors.lastname: Alvarez
authors.forename: Ariel
authors.initials: A
authors.lastname: Castro
authors.forename: Tamara
authors.initials: T
authors.lastname: Torres
authors.forename: Andrea D
authors.initials: AD
authors.lastname: Leal
authors.forename: Francisca M
authors.initials: FM
authors.lastname: Lahsen
authors.forename: Marcela A
authors.initials: MA
authors.lastname: Hermoso
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Quera
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001120:Arginine / Q000235:genetics / Q000378:metabolism; D002677:Chile; D005260:Female; D005973:Glutamine / Q000235:genetics / Q000378:metabolism; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D018123:Receptors, Interleukin / Q000235:genetics* / Q000378:metabolism
chemical_list: C515500:IL23R protein, human; D018123:Receptors, Interleukin; D005973:Glutamine; D001120:Arginine