The 14-bp deletion polymorphism in the HLA-G gene displays significant differences between ulcerative colitis and Crohn's disease and is associated with ileocecal resection in Crohn's disease

Int Immunol. 2007 May;19(5):621-6. doi: 10.1093/intimm/dxm027. Epub 2007 Apr 19.

Abstract

HLA-G is a non-classical MHC class Ib molecule predominantly expressed in cytotrophoblasts and under pathological conditions also in chronically inflamed and in malignant tissues. Recently an increased expression of HLA-G was found in ulcerative colitis (UC), but not in Crohn's disease (CD). The HLA-G gene is located in IBD3, a linkage region for inflammatory bowel disease (IBD). A 14-bp deletion polymorphism (Del+/Del-) within exon 8 of the HLA-G gene might influence transcription activity and is therefore of potential functional relevance. To investigate whether the 14-bp deletion polymorphism is associated with IBD, 371 patients with CD, 257 patients with UC and 739 controls were genotyped. The heterozygous genotype (P = 0.031) and the Del+ phenotype (P = 0.038) were significantly increased, whereas the homozygous Del- phenotype (P = 0.038) was significantly decreased in UC when compared with CD. Thus, the 14-bp deletion polymorphism within the HLA-G gene displayed significant differences between UC and CD. Moreover, a significant increase of the Del+ allele (P = 0.002) and the Del+/Del+ genotype (P = 0.013) and a consecutive decrease of the Del-/- genotype (P = 0.024) were observed in those CD cases positive for ileocecal resection. Thus, a potential effect of the HLA-G gene in IBD may affect both UC and CD. Other polymorphisms linked to the 14-bp deletion polymorphism might also contribute to immunopathogenesis. As there are several partly functional polymorphisms within the promoter region potentially influencing HLA-G expression, further studies in IBD are necessary in the context of differential expression of HLA-G between UC and CD.

MeSH terms

  • Colectomy / statistics & numerical data
  • Colitis, Ulcerative / epidemiology
  • Colitis, Ulcerative / genetics*
  • Crohn Disease / epidemiology
  • Crohn Disease / genetics*
  • Crohn Disease / surgery
  • DNA / analysis
  • DNA / isolation & purification
  • Female
  • Gene Frequency*
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Germany / epidemiology
  • HLA Antigens / genetics*
  • HLA-G Antigens
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Male
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Prevalence
  • Sequence Deletion / genetics*

Substances

  • HLA Antigens
  • HLA-G Antigens
  • Histocompatibility Antigens Class I
  • DNA