This study is the first to describe a molecular marker that distinguishes the celiac disease HLA-D region haplotype from a serologically identical haplotype in unaffected controls. Using a DQ beta chain cDNA probe and the restriction endonuclease Rsa I, we have detected a polymorphic 4.0 kb fragment which, in DQw2 individuals, is associated with a 40-fold increased relative risk of developing celiac disease. This finding should permit the identification of the celiac disease susceptibility gene(s) in the HLA-D region and facilitate a more precise dissection of the molecular and immunogenetic mechanisms involved in the pathogenesis of that disease.
An HLA-D region restriction fragment length polymorphism associated with celiac disease.
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M D Howell, R K Austin, D Kelleher, G T Nepom, M F Kagnoff; An HLA-D region restriction fragment length polymorphism associated with celiac disease.. J Exp Med 1 July 1986; 164 (1): 333–338. doi: https://doi.org/10.1084/jem.164.1.333
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