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GWAS Study

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

Son HY, Hwangbo Y, Yoo SK et al.

28703219 PubMed ID
GWAS Study Type
9969 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

SH
Son HY
HY
Hwangbo Y
YS
Yoo SK
IS
Im SW
YS
Yang SD
KS
Kwak SJ
PM
Park MS
KS
Kwak SH
CS
Cho SW
RJ
Ryu JS
KJ
Kim J
JY
Jung YS
KT
Kim TH
KS
Kim SJ
LK
Lee KE
PD
Park DJ
CN
Cho NH
SJ
Sung J
SJ
Seo JS
LE
Lee EK
PY
Park YJ
KJ
Kim JI
Chapter II

Abstract

Summary of the research findings

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.

470 Korean ancestry cases, 8,279 Korean ancestry controls

Chapter III

Study Statistics

Key metrics and study information

9969
Total Participants
GWAS
Study Type
Yes
Replicated
615 Korean ancestry cases, 605 Korean ancestry controls
Replication Participants
East Asian
Ancestry
Republic of Korea
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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