Frontiers in Cell and Developmental Biology (Feb 2021)

Identifying Thyroid Carcinoma-Related Genes by Integrating GWAS and eQTL Data

  • Fei Shen,
  • Fei Shen,
  • Xiaoxiong Gan,
  • Xiaoxiong Gan,
  • Ruiying Zhong,
  • Jianhua Feng,
  • Jianhua Feng,
  • Zhen Chen,
  • Zhen Chen,
  • Mengli Guo,
  • Mengli Guo,
  • Yayi Li,
  • Yayi Li,
  • Zhaofeng Wu,
  • Wensong Cai,
  • Wensong Cai,
  • Bo Xu,
  • Bo Xu

DOI
https://doi.org/10.3389/fcell.2021.645275
Journal volume & issue
Vol. 9

Abstract

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Thyroid carcinoma (TC) is the most common endocrine malignancy. The incidence rate of thyroid cancer has increased rapidly in recent years. The occurrence and development of thyroid cancers are highly related to the massive genetic and epigenetic changes. Therefore, it is essential to explore the mechanism of thyroid cancer pathogenesis. Genome-Wide Association Studies (GWAS) have been widely used in various diseases. Researchers have found multiple single nucleotide polymorphisms (SNPs) are significantly related to TC. However, the biological mechanism of these SNPs is still unknown. In this paper, we used one GWAS dataset and two eQTL datasets, and integrated GWAS with expression quantitative trait loci (eQTL) in both thyroid and blood to explore the mechanism of mutations and causal genes of thyroid cancer. Finally, we found rs1912998 regulates the expression of IGFALS (P = 1.70E-06) and HAGH (P = 5.08E-07) in thyroid, which is significantly related to thyroid cancer. In addition, KEGG shows that these genes participate in multiple thyroid cancer-related pathways.

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