Shen Fei, Gan Xiaoxiong, Zhong Ruiying, Feng Jianhua, Chen Zhen, Guo Mengli, Li Yayi, Wu Zhaofeng, Cai Wensong, Xu Bo
Department of Thyroid Surgery, Guangzhou First People's Hospital, School of Medicine, South China University of Technology, Guangzhou, China.
Department of Thyroid Surgery, Guangzhou First People's Hospital, Guangzhou Medical University, Guangzhou, China.
Front Cell Dev Biol. 2021 Feb 4;9:645275. doi: 10.3389/fcell.2021.645275. eCollection 2021.
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 ( = 1.70E-06) and HAGH ( = 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.
甲状腺癌（TC）是最常见的内分泌恶性肿瘤。近年来，甲状腺癌的发病率迅速上升。甲状腺癌的发生和发展与大量的基因和表观遗传变化高度相关。因此，探索甲状腺癌发病机制至关重要。全基因组关联研究（GWAS）已广泛应用于各种疾病。研究人员发现多个单核苷酸多态性（SNP）与TC显著相关。然而，这些SNP的生物学机制仍不清楚。在本文中，我们使用了一个GWAS数据集和两个eQTL数据集，并将GWAS与甲状腺和血液中的表达定量性状位点（eQTL）整合起来，以探索甲状腺癌的突变机制和因果基因。最后，我们发现rs1912998在甲状腺中调节IGFALS（=1.70E-06）和HAGH（=5.08E-07）的表达，这与甲状腺癌显著相关。此外，KEGG显示这些基因参与多个甲状腺癌相关途径。
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