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Nat Commun. 2017 Jul 13;8:15966. doi: 10.1038/ncomms15966.

Genome-wide association and expression quantitative trait loci studies identify multiple susceptibility loci for thyroid cancer.

Author information

1
Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-gu, Seoul 03080, Republic of Korea.
2
Department of Internal Medicine, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
3
Center for Thyroid Cancer, National Cancer Center, Goyang 10408, Republic of Korea.
4
Department of Biomedical Sciences, Seoul National University Graduate School, Seoul 03080, Republic of Korea.
5
Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul 03080, Republic of Korea.
6
Graduate Program in Genetic Counseling, Northwestern University, Chicago, Illinois 60637, USA.
7
Molecular Epidemiology Branch, Division of Cancer Epidemiology and Prevention, Research Institute, National Cancer Center, Goyang 10408, Republic of Korea.
8
Department of Surgery, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
9
Department of Preventive Medicine Ajou University School of Medicine, Suwon 16499, Republic of Korea.
10
Department of Epidemiology and Institute of Environment and Health, School of Public Health, Seoul National University, Seoul 08826, Republic of Korea.
11
Cancer Research Institute, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.

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.

PMID:
28703219
PMCID:
PMC5511346
DOI:
10.1038/ncomms15966
[Indexed for MEDLINE]
Free PMC Article

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