title: Genetic analyses of celiac disease in a Spanish population confirm association with CELIAC3 but not with CELIAC4.
abstract: Genetic predisposition to celiac disease (CD) is determined primarily by the human leukocyte antigen (HLA) genes (CELIAC1 region; 6p21), although many loci are involved in disease susceptibility. First, we have analysed a large series of CD patients from the Spanish Mediterranean region who had previously been characterised for the HLA complex. We have investigated how relevant regions contribute to CD susceptibility: CELIAC3 (CD28/CTLA4/ICOS region on 2q33) and CELIAC4 (19p13) as well as the tumour necrosis factor alpha (TNF-alpha) and the linfotoxin loci by case-control and association analyses. We highlight the association with the +49*A allele of cytotoxic T-lymphocyte-associated antigen 4 locus (P = 0.01), and the -308*A of TNF-alpha locus (P = 0.0008) in DQ2 individuals, although an independent role for TNF-alpha as risk factor has not been proven. Moreover, we do not confirm the association with the CELIAC4 region polymorphisms described in other populations.
authors.affiliation: Laboratory of Genetics and Molecular Medicine, Instituto de Biomedicina, Consejo Superior de Investigaciones Científicas, c/Jaume Roig 11, 46010 Valencia, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Capilla
authors.forename: E
authors.initials: E
authors.lastname: Donat
authors.forename: D
authors.initials: D
authors.lastname: Planelles
authors.forename: C
authors.initials: C
authors.lastname: Espinós
authors.forename: C
authors.initials: C
authors.lastname: Ribes-Koninckx
authors.forename: F
authors.initials: F
authors.lastname: Palau
mesh_terms: D000483:Alleles; D015703:Antigens, CD / Q000235:genetics*; D000943:Antigens, Differentiation / Q000235:genetics*; D060908:CTLA-4 Antigen; D016022:Case-Control Studies; D002446:Celiac Disease / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D009218:Myosins / Q000235:genetics*; D011110:Polymorphism, Genetic; D013030:Spain; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics / Q000378:metabolism
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; D014409:Tumor Necrosis Factor-alpha; C113469:myosin IXB; D009218:Myosins