Title |
Genome-wide association and expression quantitative trait loci studies identify multiple susceptibility loci for thyroid cancer
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Published in |
Nature Communications, July 2017
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DOI | 10.1038/ncomms15966 |
Pubmed ID | |
Authors |
Ho-Young Son, Yul Hwangbo, Seong-Keun Yoo, Sun-Wha Im, San Duk Yang, Soo-Jung Kwak, Min Seon Park, Soo Heon Kwak, Sun Wook Cho, Jun Sun Ryu, Jeongseon Kim, Yuh-Seog Jung, Tae Hyun Kim, Su-jin Kim, Kyu Eun Lee, Do Joon Park, Nam Han Cho, Joohon Sung, Jeong-Sun Seo, Eun Kyung Lee, Young Joo Park, Jong-Il Kim |
Abstract |
Thyroid cancer is the most common cancer in Korea. Several susceptibility loci of differentiated thyroid cancer (DTC) were identified by previous genome-wide association studies (GWASs) in Europeans only. Here we conducted a GWAS and a replication study in Koreans using a total of 1,085 DTC cases and 8,884 controls, and validated these results using expression quantitative trait loci (eQTL) analysis and clinical phenotypes. The most robust associations were observed in the NRG1 gene (rs6996585, P=1.08 × 10(-10)) and this SNP was also associated with NRG1 expression in thyroid tissues. In addition, we confirmed three previously reported loci (FOXE1, NKX2-1 and DIRC3) and identified seven novel susceptibility loci (VAV3, PCNXL2, INSR, MRSB3, FHIT, SEPT11 and SLC24A6) associated with DTC. Furthermore, we identified specific variants of DTC that have different effects according to cancer type or ethnicity. Our findings provide deeper insight into the genetic contribution to thyroid cancer in different populations. |
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Geographical breakdown
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United States | 3 | 25% |
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India | 1 | 8% |
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Demographic breakdown
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Mendeley readers
Geographical breakdown
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Researcher | 15 | 20% |
Student > Ph. D. Student | 14 | 19% |
Student > Postgraduate | 9 | 12% |
Professor > Associate Professor | 6 | 8% |
Student > Master | 6 | 8% |
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Unspecified | 1 | 1% |
Other | 7 | 9% |
Unknown | 16 | 22% |