Genetic analyses of celiac disease in a Spanish population confirm association with CELIAC3 but not with CELIAC4

Tissue Antigens. 2007 Oct;70(4):324-9. doi: 10.1111/j.1399-0039.2007.00899.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Antigens, CD / genetics*
  • Antigens, Differentiation / genetics*
  • CTLA-4 Antigen
  • Case-Control Studies
  • Celiac Disease / genetics*
  • Celiac Disease / metabolism
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Haplotypes
  • Humans
  • Male
  • Myosins / genetics*
  • Polymorphism, Genetic
  • Spain
  • Tumor Necrosis Factor-alpha / genetics
  • Tumor Necrosis Factor-alpha / metabolism

Substances

  • Antigens, CD
  • Antigens, Differentiation
  • CTLA-4 Antigen
  • CTLA4 protein, human
  • Tumor Necrosis Factor-alpha
  • myosin IXB
  • Myosins