Endocrine Abstracts

Genetic variants of the HLA class II region (DRB1, DQB1 and DQA1) and CTLA-4 contribute to susceptibility to Graves' disease (GD). Whilst disease susceptibility has been mapped to a non-coding 6.1kb 3' region of CTLA-4, the primary aetiological variants within the HLA class II region remain unknown. The aims of this study were (i) determine which of the three HLA class II loci account for the primary association with GD and (ii) examine disea...

Graves' disease (GD) is caused by genetic and environmental factors. To date only the HLA class II region on chromosome 6p21 and the CTLA-4 gene on chromosome 2q33 have been consistently associated with disease. A recent study has indicated the most likely position of the aetiological variant in the CTLA-4 locus to be in a 6.1kb region of the 3' untranslated region of the gene. However the same degree of mapping resolution has not been achieved for the HLA class II region due ...