title: ICAM1 R241 is not associated with celiac disease in the Spanish population.
abstract: Celiac disease (CD) is a chronic intestinal inflammatory disease that develops in genetically susceptible individuals after gluten ingestion. The ICAM1 gene, located in the CD linkage region 19p13, encodes an intercellular adhesion molecule (ICAM-1) involved in inflammatory processes. Increased levels of ICAM-1 were observed in intestinal biopsies and in sera of CD patients. In addition, an association between the ICAM1 polymorphism G241R and CD patients has been recently described in a French population. Our aim in this study was to analyze the role of ICAM1 polymorphisms in CD susceptibility in the Spanish population. We performed a case-control study with 608 CD patients and 537 healthy control individuals and a family study including 231 trios. Four ICAM1 single nucleotide polymorphisms (SNPs) were analyzed: three nonsynonymous, R478W (rs5030400), P352L (rs1801714) and G241R (rs1799969); and one intronic, rs281432. Despite having above 98% statistical power to detect the association described in the French population (odds ratio = 1.7), we did not find any differences in genotypic or allelic frequencies of the G241R polymorphism between our CD patients and controls, and no differences were observed when the other SNPs were analyzed. Therefore, in our population our results discard the important previously described role of ICAM1 G241R in celiac disease.
authors.affiliation: Servicio de Inmunología Clínica, Hospital Clínico San Carlos, 28040 Madrid, Spain.
authors.forename: Bárbara
authors.initials: B
authors.lastname: Dema
authors.forename: Alfonso
authors.initials: A
authors.lastname: Martínez
authors.forename: Isabel
authors.initials: I
authors.lastname: Polanco
authors.forename: Carlos
authors.initials: C
authors.lastname: Maluenda
authors.forename: Miguel
authors.initials: M
authors.lastname: Fernández-Arquero
authors.forename: Emilio G
authors.initials: EG
authors.lastname: de la Concha
authors.forename: Elena
authors.initials: E
authors.lastname: Urcelay
authors.forename: Concepción
authors.initials: C
authors.lastname: Núñez
mesh_terms: D016022:Case-Control Studies; D002446:Celiac Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005828:Genetics, Population; D006801:Humans; D018799:Intercellular Adhesion Molecule-1 / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013030:Spain
chemical_list: D018799:Intercellular Adhesion Molecule-1