Abstract
Recent studies have identified common genetic variants associated with TSH, free T4 and thyroid peroxidase antibodies, but it is unclear whether these differ between patients with Hashimoto's disease and Graves' disease. To examine whether 11 common genetic variants differ between Graves' disease and Hashimoto's disease. We genotyped 11 common variants in a discovery cohort of 203 Australian patients with autoimmune thyroid disease (AITD). Two variants with significant or suggestive associations were analysed in a replication cohort of 384 Danish patients. For rs753760 (PDE10A), the minor allele frequency in Graves' disease and Hashimoto's disease was 0·38 vs. 0·23, respectively, (P=6·42×10-4 ) in the discovery cohort, 0·29 vs. 0·24 (P=0·147) in the replication cohort and 0·32 vs. 0·24 in combined analysis (P=0·0021; all analyses adjusted for sex). In healthy controls from Busselton, the frequency was 0·29, significantly different from Hashimoto's disease but not Graves' disease. For rs4889009 (MAF gene region), the frequency of the minor G-allele in Graves' disease and Hashimoto's disease was 0·48 vs. 0·36 (P=0·0156) in the discovery cohort, 0·48 vs. 0·34 (P=1·83×10-4 ) in the replication cohort and 0·48 vs. 0·35 in the combined analysis (P=7·53×10-6 ); in controls, the frequency was 0·38, significantly different from Graves' disease but not Hashimoto's disease. After further adjustment for smoking, associations with rs4889009 remained significant, whereas those with rs753760 were not. Common variants in PDE10A and MAF gene regions may influence whether patients with AITD develop Graves' disease or Hashimoto's disease.
Highlights
The thyroid is targeted by autoimmune responses more frequently than any other organ [1]
For rs753760 in PDE10A, there was a significant difference between groups (P=6.42 x 10-4) (Table 2) after adjustment for sex, whereas for rs4889009 in the MAF region, after Bonferroni correction there was only suggestive evidence of a difference (P=0.0156)
Genotypes for rs753760 in PDE10A did not differ significantly between groups (P=0. 147), whereas for rs4889009 in the MAF gene region there was a significant difference after Bonferroni correction (P=1.83 x 10-4)
Summary
The thyroid is targeted by autoimmune responses more frequently than any other organ [1]. The most common presentations of autoimmune thyroid disease (AITD) are hypothyroidism caused by Hashimoto's disease and Graves' hyperthyroidism. Both diseases are characterised by lymphocytic infiltration of the thyroid and the production of thyroid autoantibodies [1,2,3]. TPOAb are present in about 10% of the general population [7, 8], but most TPOAb-positive individuals do not develop clinically overt thyroid disease
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