title: NOD2/CARD15 and Toll-like 4 receptor gene polymorphism in Chilean patients with inflammatory bowel disease.
abstract: Crohn's disease (CD) and ulcerative colitis (UC) are multifactorial diseases with a genetic background. Genes related to the innate immune response have been observed to be involved. Polymorphisms of Toll-like receptor 4 (TLR4) and CARD15/NOD2 are thought to be involved in the pathogenesis of inflammatory bowel disease (IBD). There is no information about the frequency of these polymorphisms in South American and Chilean populations. Aim. To investigate the distribution of CARD15/NOD2 (Arg702Trp, Gly908Arg and Leu1007fsinsC) and TLR4 (Asp299Gly) polymorphisms in Chilean patients with IBD. Methods. DNA was obtained from 22 CD, 22 UC patients and 20 healthy individuals. Genotyping was performed by allele-specific PCR and by PCR-RFLP analysis. Clinical and demographic features were characterized. Results. Among the CD patients, the clinical pattern was deemed inflammatory in 14, while five had penetrating and five stricturing, variants. One patient had esophageal involvement, five perianal, seven ileal and in 16 the colon was involved. Among the UC patients, two had proctitis, two proctosigmoiditis, four left-sided colitis and 14 pancolitis. NOD2/CARD15 analysis revealed the presence of the 702Trp allele in two CD patients (both heterozygotes), 1007fsinsC in one CD patient (heterozygote) while 908Arg was found in one UC patient. The 299Gly TLR4 allele was identified in one UC and one CD patient. Conclusion. This genetic study shows that the alleles frequently associated with IBD (1007fsinsC, 908Arg and 702Trp in NOD2/CARD15 and 299Gly TLR4) have a low incidence in Chilean, IBD patients, which is similar to European populations. It is possible that, in addition to environmental factors, other genetic polymorphisms may be involved in the pathogenesis of the disease in Chilean, IBD patients.
authors.affiliation: Department of Internal Medicine, Gastroenterology, Hospital Clínico Universidad de Chile, Santiago de Chile.
authors.forename: Carolina
authors.initials: C
authors.lastname: Figueroa
authors.forename: Alexis
authors.initials: A
authors.lastname: Peralta
authors.forename: Luisa
authors.initials: L
authors.lastname: Herrera
authors.forename: Pedro
authors.initials: P
authors.lastname: Castro
authors.forename: Andrea
authors.initials: A
authors.lastname: Gutiérrez
authors.forename: Jorge
authors.initials: J
authors.lastname: Valenzuela
authors.forename: Juan C
authors.initials: JC
authors.lastname: Aguillón
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Quera
authors.forename: Marcela A
authors.initials: MA
authors.lastname: Hermoso
mesh_terms: D002677:Chile; D020022:Genetic Predisposition to Disease; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000378:metabolism*; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D053473:Nod2 Signaling Adaptor Protein; D011110:Polymorphism, Genetic; D051197:Toll-Like Receptor 4 / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; C495345:TLR4 protein, human; D051197:Toll-Like Receptor 4