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

Author

Listed:
  • Ho-Young Son

    (Seoul National University College of Medicine)

  • Yul Hwangbo

    (Seoul National University College of Medicine
    Center for Thyroid Cancer, National Cancer Center)

  • Seong-Keun Yoo

    (Seoul National University Graduate School
    Genomic Medicine Institute, Medical Research Center, Seoul National University)

  • Sun-Wha Im

    (Seoul National University College of Medicine)

  • San Duk Yang

    (Seoul National University Graduate School)

  • Soo-Jung Kwak

    (Seoul National University Graduate School)

  • Min Seon Park

    (Seoul National University College of Medicine
    Graduate Program in Genetic Counseling, Northwestern University)

  • Soo Heon Kwak

    (Seoul National University College of Medicine)

  • Sun Wook Cho

    (Seoul National University College of Medicine)

  • Jun Sun Ryu

    (Center for Thyroid Cancer, National Cancer Center)

  • Jeongseon Kim

    (Molecular Epidemiology Branch, Research Institute, National Cancer Center)

  • Yuh-Seog Jung

    (Center for Thyroid Cancer, National Cancer Center)

  • Tae Hyun Kim

    (Center for Thyroid Cancer, National Cancer Center)

  • Su-jin Kim

    (Seoul National University College of Medicine)

  • Kyu Eun Lee

    (Seoul National University College of Medicine)

  • Do Joon Park

    (Seoul National University College of Medicine)

  • Nam Han Cho

    (Department of Preventive Medicine Ajou University School of Medicine)

  • Joohon Sung

    (School of Public Health, Seoul National University)

  • Jeong-Sun Seo

    (Seoul National University College of Medicine
    Seoul National University Graduate School
    Genomic Medicine Institute, Medical Research Center, Seoul National University)

  • Eun Kyung Lee

    (Center for Thyroid Cancer, National Cancer Center)

  • Young Joo Park

    (Seoul National University College of Medicine
    Genomic Medicine Institute, Medical Research Center, Seoul National University)

  • Jong-Il Kim

    (Seoul National University College of Medicine
    Seoul National University Graduate School
    Cancer Research Institute, Seoul National University College of Medicine)

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.

Suggested Citation

  • 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, 2017. "Genome-wide association and expression quantitative trait loci studies identify multiple susceptibility loci for thyroid cancer," Nature Communications, Nature, vol. 8(1), pages 1-12, December.
    • Handle: RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_ncomms15966
    DOI: 10.1038/ncomms15966
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