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Genome-wide analysis identifies two susceptibility loci for positive thyroid peroxidase and thyroglobulin antibodies

Journal of Clinical Endocrinology & Metabolism Mar 10, 2020

Matana A, Boutin T, Torlak V, et al. - Given that the development of antibodies to thyroid peroxidase (TPOAb) and thyroglobulin (TgAb) is the major diagnostic hallmark and early indicator of autoimmune thyroid disease, researchers conducted a genome-wide meta-analysis in a total of 2,613 people from Croatia to identify novel loci correlated with TPOAb and/or TgAb positivity. Candidates with elevated plasma TPOAb and/or TgAb were defined as cases (N = 619) and those with TPOAb and TgAb within reference values were defined as controls (N = 1,994). Although the observed variants were first identified with positivity of TPOAb and TgAb, both YES1 and IRF8 were previously associated with susceptibility to other autoimmune diseases and reflect possible biological candidates. This investigation adds to the understanding of genetics underlying thyroid antibodies and gives a good basis for further research.
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