Data from A Comprehensive Meta-analysis of Case–Control Association Studies to Evaluate Polymorphisms Associated with the Risk of Differentiated Thyroid Carcinoma

Abstract

<div>Abstract<p><b>Background:</b> Linkage analyses and association studies suggested that inherited genetic variations play a role in the development of differentiated thyroid carcinoma (DTC).</p><p><b>Methods:</b> We combined the results from a genome-wide association study (GWAS) performed by our group and from published studies on DTC. With a first approach, we evaluated whether a SNP published as associated with the risk of DTC could replicate in our GWAS (using FDR as adjustment for multiple comparisons). With the second approach, meta-analyses were performed between literature and GWAS when both sources suggested an association, increasing the statistical power of the analysis.</p><p><b>Results:</b> rs1799814 (<i>CYP1A1</i>), rs1121980 (<i>FTO</i>), and 3 SNPs within 9q22 (rs965513, rs7048394, and rs894673) replicated the associations described in the literature. In addition, the meta-analyses between literature and GWAS revealed 10 more SNPs within 9q22, six within <i>FTO</i>, two within <i>SOD1</i>, and single variations within <i>HUS1, WDR3, UGT2B7, ALOX12, TICAM1, ATG16L1, HDAC4, PIK3CA, SULF1, IL11RA, VEGFA</i>, and 1p31.3, 2q35, 8p12, and 14q13.</p><p><b>Conclusion:</b> This analysis confirmed several published risk <i>loci</i> that could be involved in DTC predisposition.</p><p><b>Impact:</b> These findings provide evidence for the role of germline variants in DTC etiology and are consistent with a polygenic model of the disease. <i>Cancer Epidemiol Biomarkers Prev; 25(4); 700–13. ©2016 AACR</i>.</p></div>