Autoimmune Thyroid Disease, Susceptibility To, 4

The autoimmune thyroid disorders, or AITDs, comprise 2 related disorders, Graves disease (275000) and Hashimoto thyroiditis (140300). See 608173.

Tomer et al. (2003) performed a whole-genome linkage study in an expanded data set of 102 multiplex families with AITD (540 individuals), using 400 microsatellite markers. Seven loci showed evidence for linkage to AITD (either Graves disease or Hashimoto thyroiditis or both). Three loci, on chromosomes 6p (AITD1; 608173), 8q (AITD3; 608175), and 10q (AITD4), showed evidence for linkage with both GD and HT (maximum multipoint heterogeneity lod scores (hlod) 2.0, 3.5, and 4.1, respectively). The maximum 2-point lod score at the 10q locus was 2.7 for marker D10S537 (93.3 cM) under the assumption of a recessive model at a penetrance of 30%. At a penetrance of 80% the lod score for D10S537 increased to 3.6. The results demonstrated that multiple genes may predispose to both Graves disease and Hashimoto thyroiditis and that some may be common to both diseases and some unique. The loci that continued to show evidence for linkage in the expanded data set represented serious candidate regions for gene identification.