PMID- 17767555 OWN - NLM STAT- MEDLINE DCOM- 20071127 LR - 20111117 IS - 0001-2815 (Print) IS - 0001-2815 (Linking) VI - 70 IP - 4 DP - 2007 Oct TI - Genetic analyses of celiac disease in a Spanish population confirm association with CELIAC3 but not with CELIAC4. PG - 324-9 AB - 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. FAU - Capilla, A AU - Capilla A AD - Laboratory of Genetics and Molecular Medicine, Instituto de Biomedicina, Consejo Superior de Investigaciones Cientificas, c/Jaume Roig 11, 46010 Valencia, Spain. FAU - Donat, E AU - Donat E FAU - Planelles, D AU - Planelles D FAU - Espinos, C AU - Espinos C FAU - Ribes-Koninckx, C AU - Ribes-Koninckx C FAU - Palau, F AU - Palau F LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Tissue Antigens JT - Tissue antigens JID - 0331072 RN - 0 (Antigens, CD) RN - 0 (Antigens, Differentiation) RN - 0 (CTLA-4 Antigen) RN - 0 (CTLA4 protein, human) RN - 0 (Tumor Necrosis Factor-alpha) RN - 0 (myosin IXB) RN - EC 3.6.4.1 (Myosins) SB - IM MH - Alleles MH - Antigens, CD/*genetics MH - Antigens, Differentiation/*genetics MH - CTLA-4 Antigen MH - Case-Control Studies MH - Celiac Disease/*genetics/metabolism MH - Female MH - *Genetic Predisposition to Disease MH - Genotype MH - Haplotypes MH - Humans MH - Male MH - Myosins/*genetics MH - Polymorphism, Genetic MH - Spain MH - Tumor Necrosis Factor-alpha/genetics/metabolism EDAT- 2007/09/05 09:00 MHDA- 2007/12/06 09:00 CRDT- 2007/09/05 09:00 PHST- 2007/09/05 09:00 [pubmed] PHST- 2007/12/06 09:00 [medline] PHST- 2007/09/05 09:00 [entrez] AID - TAN899 [pii] AID - 10.1111/j.1399-0039.2007.00899.x [doi] PST - ppublish SO - Tissue Antigens. 2007 Oct;70(4):324-9. doi: 10.1111/j.1399-0039.2007.00899.x.