Variant CJD susceptibility

December 12, 2001 Journal of the American Medical Asssociation JAMA, 
Vol. 286 No. 22,

People who lack a particular variant of a gene involved in the immune response may, according to a new study by scientists in England and cited in this study, be three times more likely to develop variant Creutzfeldt-Jakob (vCJD) syndrome.

The investigators, from University College London, National Blood Service, Royal Free and University College Medical School, all in London, and Oxford Radcliffe Hospitals, Oxford, reported their findings in the November 15 issue of Nature.

The gene, called DQ7, is one of several variants of a gene that is part of the human leukocyte antigen (HLA) complex, a cluster of genes that play a role in presenting peptides, such as from bacteria, to the immune system. The researchers found that only 12% of 50 patients with vCJD had this genetic variant compared with nearly 36% of controls.

If the finding that DQ7 has a protective effect is confirmed, it "should aid differential diagnosis and may have important implications for understanding susceptibility to infection by [bovine spongiform encephalopathy] prions, and the distinctive pathogenesis of vCJD, as well as in the identification of targets for prevention and therapy of vCJD," they said.

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