Genome-wide association analysis of Hashimoto thyroiditis projekt

 


In this project, we have created CROHT biobank, which is a bank of DNA/serum/plasma samples and collected/measured > 200 phenotypes from 500 patients with Hashimoto’s thyroiditis (HT). We have performed genome-wide association analysis (GWAS) and replication analysis using HT patients and control participants, obtained through collaboration. We have included a total of 1474 participants (732 HT patients and 742 controls) which makes our study the largest GWAS analysis of HT to date. We have found three novel suggestively associated genetic variants with HT (published in J Endocrinol Invest, IF=3.166). In the separate GWAS analysis of thyroid antibodies in HT patients, we have found two suggestively associated genetic variants with thyroglobulin antibodies (TgAb) and one with thyroid peroxidase antibodies (TPOAb) (published in Sci Rep IF=4.122), whereas in GWAS analysis of thyroid volume, we observed genome-wide significant associations of two genetic variants with thyroid volume (currently revised in J Clin Endocrinol Metab IF=5.789). Additionally, through this project we have performed detailed phenotypic characterisation of HT patients with the main, and novel, finding of association of TgAb antibodies with symptom burden, suggesting a role of thyroid autoimmunity in clinical manifestations of HT (published in Immunol Invest, IF=2.588). These three papers are already listed under the point 1). However, the total number of original scientific papers that resulted from this project is seven. 


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