IL-23R Arg381Gln polymorphism in Chilean patients with inflammatory bowel disease.
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.
Venegas
Mauricio
M
Department of Medicine, Gastroenterology, Hospital Clínico, Universidad de Chile, Santiago, Chile.
Beltrán
Caroll J
CJ
Alvarez
Luis
L
Castro
Ariel
A
Torres
Tamara
T
Leal
Andrea D
AD
Lahsen
Francisca M
FM
Hermoso
Marcela A
MA
Quera
Rodrigo
R
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
C515500:IL23R protein, human; D018123:Receptors, Interleukin; D005973:Glutamine; D001120:Arginine