Genetics of celiac disease.

Celiac disease (CD) is a chronic inflammatory disease of the gut resulting from ingestion of gluten, occurring in genetically susceptible individuals. The strong genetic association of CD with the DQ2 and DQ8 HLA heterodimers has been known for long, but others non-HLA genes are involved. In order to identify susceptibility genes to CD, several studies have been performed, based on either linkage analyses or candidate gene approaches. This review describes these different studies and their results. The hypothesis of the implication of the DR53 heterodimer in the HLA region has been proposed. The existence of a susceptibility locus on chromosome 5q has been evidenced through linkage analysis and candidate gene strategies have revealed the role of CTLA-4 and of the immunoglobulin gamma genes in the disease.

[1]  E. G. de la Concha,et al.  Celiac disease and TNF promoter polymorphisms. , 2000, Human immunology.

[2]  M. Babron,et al.  Study of two ectopeptidases in the susceptibility to celiac disease: two newly identified polymorphisms of dipeptidylpeptidase IV. , 2000, Journal of pediatric gastroenterology and nutrition.

[3]  L. Sollid,et al.  Role of tissue transglutaminase in celiac disease. , 2000, Journal of pediatric gastroenterology and nutrition.

[4]  M. Mazzilli,et al.  Search for Coeliac Disease Susceptibility Loci on 7q11.23 Candidate Region: Absence of Association with the ELN17 Microsatellite Marker , 2000, Human Heredity.

[5]  M. Babron,et al.  Linkage and association study of the CTLA-4 region in coeliac disease for Italian and Tunisian populations. , 1999, Tissue antigens.

[6]  K. Kaukinen,et al.  Clinical Features of Celiac Disease Today , 1999, Digestive Diseases.

[7]  M. Babron,et al.  Susceptibility to coeliac disease in Tunisian children and GM immunoglobulin allotypes. , 1999, European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics.

[8]  E. Thorsby,et al.  A gene telomeric of the HLA class I region is involved in predisposition to both type 1 diabetes and coeliac disease. , 1999, Tissue antigens.

[9]  A. Sette,et al.  HLA-DR53 molecules are associated with susceptibility to celiac disease and selectively bind gliadin-derived peptides , 1999, Immunogenetics.

[10]  L. Greco,et al.  Linkage disequilibrium between intra‐locus variants in the aminopeptidase n gene and test of their association with coeliac disease , 1999, Annals of human genetics.

[11]  J. Lanchbury,et al.  Meta‐analysis of genome searches , 1999, Annals of human genetics.

[12]  Mikko Arvas,et al.  CD28/CTLA4 gene region on chromosome 2q33 confers genetic susceptibility to celiac disease. A linkage and family-based association study. , 1999, Tissue antigens.

[13]  J. Bach,et al.  CTLA-4 gene polymorphism is associated with predisposition to coeliac disease , 1998, Gut.

[14]  J. Partanen,et al.  TNF microsatellite alleles a2 and b3 are not primarily associated with celiac disease in the Finnish population. , 1998, Tissue antigens.

[15]  S. Virgiliis,et al.  Genome search in celiac disease. , 1998, American journal of human genetics.

[16]  D. Jewell,et al.  Linkage analysis of candidate regions for coeliac disease genes. , 1997, Human molecular genetics.

[17]  J. Rotter,et al.  Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. , 1997, Human molecular genetics.

[18]  D. Schuppan,et al.  Identification of tissue transglutaminase as the autoantigen of celiac disease , 1997, Nature Medicine.

[19]  R. Elston,et al.  An autosomal screen for genes that predispose to celiac disease in the western counties of Ireland , 1996, Nature Genetics.

[20]  J. Mansfield,et al.  TNF2, a polymorphism of the tumour necrosis‐α gene promoter, is a component of the celiac disease major histocompatibility complex haplotype , 1996, European journal of immunology.

[21]  C. Boitard,et al.  Absence of primary association between DM gene polymorphism and insulin-dependent diabetes mellitus or celiac disease. , 1996, Human immunology.

[22]  J. Todd,et al.  The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. , 1996, Human molecular genetics.

[23]  L. Greco,et al.  Gluten-sensitive enteropathy. , 1996, Pediatric clinics of North America.

[24]  L. Field,et al.  A locus on chromosome 15q26 (IDDM3) produces susceptibility to insulin-dependent diabetes mellitus , 1994, Nature Genetics.

[25]  J. Bach,et al.  Polymorphism of antigen processing (TAP, LMP) and HLA class II genes in celiac disease. , 1994, Human immunology.

[26]  T. Wienker,et al.  T-cell receptor variable genes and genetic susceptibility to celiac disease: an association and linkage study. , 1993, Gastroenterology.

[27]  E. Thorsby,et al.  HLA susceptibility genes in celiac disease: genetic mapping and role in pathogenesis. , 1993, Gastroenterology.

[28]  E. Thorsby,et al.  On the HLA-DQ(alpha 1*0501, beta 1*0201)-associated susceptibility in celiac disease: a possible gene dosage effect of DQB1*0201. , 1993, Tissue antigens.

[29]  W. Ewens,et al.  Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). , 1993, American journal of human genetics.

[30]  E. Thorsby,et al.  HLA-DR and -DQ genotypes of celiac disease patients serologically typed to be non-DR3 or non-DR5/7. , 1992, Human immunology.

[31]  E. Thorsby,et al.  Susceptibility to develop celiac disease is primarily associated with HLA-DQ alleles. , 1990, Human immunology.

[32]  E. Thorsby,et al.  Evidence for a primary association of celiac disease to a particular HLA-DQ alpha/beta heterodimer , 1989, The Journal of experimental medicine.

[33]  I. Polanco,et al.  HLA-DR phenotypes in Spanish coeliac children: their contribution to the understanding of the genetics of the disease. , 1983, Gut.

[34]  K. Usadel,et al.  CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus. , 1997, The Journal of clinical endocrinology and metabolism.

[35]  R. McManus,et al.  Association of celiac disease with microsatellite polymorphisms close to the tumor necrosis factor genes. , 1996, Human immunology.

[36]  R. Mcconnell,et al.  The Genetics of Coeliac Disease , 1981, Springer Netherlands.

[37]  A. Ellis.  Coeliac Disease: Previous Family Studies , 1981 .

[38]  I. Polanco,et al.  Gluten Sensitive Enteropathy in Spain: Genetic and Environmental Factors , 1981 .