Graves' disease (GD) is inherited as a complex trait and previous studies have identified linkage and association of both GD and type 1 diabetes to markers on chromosome 18q21. A candidate gene for autoimmunity that is contained within the critical interval on 18q21 is the apoptosis regulator 'Deleted in Colorectal Carcinoma' (DCC).
317 Graves' disease probands and 311 controls were genotyped for a single nucleotide polymorphism that encodes a glycine to arginine (GGG->AGG) change at codon 201 of the DCC gene. Genomic DNA was amplified by PCR using a modified oligonucleotide primer. The PCR product was genotyped using the restriction enzyme MspI, which digested only in the presence of the G (glycine) allele. The assay was validated by direct DNA sequencing.
Of 634 GD alleles, 241 (38%) carried the A allele, compared to 258 (41%) of 622 control alleles (Chi-squared=1.58, p=0.21, NS).
Therefore, we cannot provide support for the hypothesis that DCC is a GD susceptibility gene in our population.
03 - 04 Dec 2001
Society for Endocrinology