HLA susceptibility genes in celiac disease: Genetic mapping and role in pathogenesis

doi:10.1016/0016-5085(93)90912-V

Gastroenterology

Volume 105, Issue 3, September 1993, Pages 910-922

https://doi.org/10.1016/0016-5085(93)90912-V Get rights and content

Abstract

The overrepresentation of particular HLA alleles in patients with celiac disease was first noted two decades ago. Several lines of evidence obtained during the last years strongly suggest that a particular HLA-DQ heterodimer, encoded by the DQA1*0501 and DQB1*0201 genes in cis or trans configuration, confers the primary disease susceptibility. This paper reviews the evidence behind this concept and discusses how this particular DQ molecule may be involved in the pathogenesis.

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: Supported by grants from the Research Council of Norway.

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Special report and reviewHLA susceptibility genes in celiac disease: Genetic mapping and role in pathogenesis

Abstract

Celiac disease

Annu Rev Nutr

Coeliac disease: a critical review of aetiology and pathogenesis

Clin Chim Acta

Celiac sprue

N Engl J Med

Lymphocyte subpopulations in the small intestine. The findings in normal mucosa and in the mucosa of patients with adult coeliac disease

Clin Exp Immunol

The microenvironment of coeliac disease: T cell phenotypes and expression of the T2 “blast” antigen by small bowel lymphocytes

Clin Exp Immunol

Immunoperoxidase demonstration of the cellular composition of the normal and coeliac small bowel

Clin Exp Immunol

In situ two- and three-color immunofluorescence staining of mucosal T cells in coeliac disease

Prog Histochem Cytochem

Gluten, major histocompatibility complex, and the small intestine. A molecular and immunobiologic approach to the spectrum of gluten sensitivity (“celiac sprue”)

Gastroenterology

Coeliac disease: previous family studies

Gluten sensitive enteropathy in Spain: genetic and environmental factors

HLA-DR phenotypes in Spanish coeliac children: their contribution to the understanding of the genetics of the disease

Gut

Map of the human MHC

Immunol Today

Regulation of MHC transcription

Transplantation

Allelic polymorphism in transcriptional regulatory regions of HLA-DQB

J Exp Med

Nomenclature for factors of the HLA system, 1991

Tissue Antigens

Nomenclature for factors of the HLA system, 1990

Tissue Antigens

A molecular model of MHC class I-restricted antigen processing

Immunol Today

Intracellular transport of MHC class II molecules

Immunol Today

Structure of the human class I histocompatibility antigen, HLA-A2

Nature

The structure of HLA-B27 reveals nonamer self-peptides bound in an extended conformation

Nature

A hypothetical model of the foreign antigen binding site of class II histocompatibility molecules

Nature

Single amino acid changes in DR and antigen define residues critical for peptide-MHC binding and T cell recognition

J Immunol

Three-dimensional structure of the human class II histocompatibility antigen HLA-DR1

Nature

Binding of immunogenic peptides to la histocompatibility molecules

Nature

The relation between major histocompatibility complex (MHC) restriction and the capacity of la to bind immunogenic peptides

Science

Specificity pockets for the side chains of peptide antigens in HLA-Aw68

Nature

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Science

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J Clin Invest

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Lancet

HLA-Dw3 associated with coeliac disease

Lancet

Strong association between the HLA-Dw3-related B cell alloantigen-DRw3 and coeliac disease

Tissue Antigens

HLA and disease associations

Extended major histocompatibility complex haplotypes in patients with gluten-sensitive enteropathy

J Clin Invest

A high frequency of the A30, B18, DR3, DRw52, DQw2 extended haplotype in Sardinian celiac disease patients: further evidence that the disease susceptibility is conferred by DQA1*0501, B1*0201

Tissue Antigens

B-cell alloantigens in coeliac disease

Two HLA-D and DR alleles are associated with coeliac disease

Tissue Antigens

Adult celiac disease associated with HLA-DRw3 and -DRw7

Tissue Antigens

Histocompatibility determinants in Israeli Jewish patients with coeliac disease: population and family study

Tissue Antigens

Family and population studies of HLA and coeliac disease in the West of Ireland

Tissue Antigens

HLA and diseases: involvement of more than one HLA-linked determinant of disease susceptibility

Immunol Rev

HLA-ABC and DR antigens in celiac disease. A study in a pediatric Italian population

Vox Sang

Special report and review
HLA susceptibility genes in celiac disease: Genetic mapping and role in pathogenesis

A high frequency of the A30, B18, DR3, DRw52, DQw2 extended haplotype in Sardinian celiac disease patients: further evidence that the disease susceptibility is conferred by DQA10501, B10201

A study of Italian pediatric celiac disease patients confirms that the primary HLA association is to the DQ(α10501,β10201) heterodimer

On the HLA-DQ(α1* 0501,β10201) associated susceptibility in celiac disease: a possible gene dosage effect of DQB10201