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·인용수 90
·2017
Genome-wide association and expression quantitative trait loci studies identify multiple susceptibility loci for thyroid cancer
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, Junsun Ryu, Jeongseon Kim, Yuh‐Seog Jung, Tae Hyun Kim, Su‐jin Kim, Kyu Eun Lee, Do Joon Park, Nam H. Cho, Joohon Sung, Jeong‐Sun Seo, Eun Kyung Lee, Young Joo Park, Jong‐Il Kim
IF 15.7Nature Communications
초록

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<sup>-10</sup>) 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.

키워드
Expression quantitative trait lociGenome-wide association studyThyroid cancerGenetic associationBiologyQuantitative trait locusFHITGeneticsSNPPhenotype
타입
article
IF / 인용수
15.7 / 90
게재 연도
2017