title: Toll-like receptor 4 (TLR4) gene polymorphisms in celiac disease.
abstract: Toll-like receptors (TLRs) participate in the first line of immune defense through antigen pattern recognition, and ligands include exogenous and host-derived molecules. Coding variants in TLR4 have been associated with autoimmune diseases like ulcerative colitis, Crohn's disease, and rheumatoid arthritis. Our aim was to determine whether these polymorphisms are associated with celiac disease (CD). Two coding single nucleotide polymorphisms of TLR4 (Asp299Gly and Thr399Ile) were genotyped in 95 family trios with CD as well as in 186 patients and 186 unrelated controls. There were no differences in allele, genotype or haplotype distribution, or transmission between patient and control groups. Our results do not support association of these TLR4 variants with CD.
authors.affiliation: Endocrinology and Diabetes Research Group, Hospital de Cruces, Barakaldo, Bizkaia, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Santin
authors.forename: A
authors.initials: A
authors.lastname: Castellanos-Rubio
authors.forename: I
authors.initials: I
authors.lastname: Hualde
authors.forename: L
authors.initials: L
authors.lastname: Castaño
authors.forename: J C
authors.initials: JC
authors.lastname: Vitoria
authors.forename: J R
authors.initials: JR
authors.lastname: Bilbao
mesh_terms: D019943:Amino Acid Substitution; D016022:Case-Control Studies; D002446:Celiac Disease / Q000453:epidemiology / Q000235:genetics*; D005190:Family; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D013030:Spain / Q000453:epidemiology; D051197:Toll-Like Receptor 4 / Q000235:genetics*
chemical_list: D051197:Toll-Like Receptor 4