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GWAS Study

A genome-wide association study yields five novel thyroid cancer risk loci.

Gudmundsson J, Thorleifsson G, Sigurdsson JK et al.

28195142 PubMed ID
GWAS Study Type
290551 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

GJ
Gudmundsson J
TG
Thorleifsson G
SJ
Sigurdsson JK
SL
Stefansdottir L
JJ
Jonasson JG
GS
Gudjonsson SA
GD
Gudbjartsson DF
MG
Masson G
JH
Johannsdottir H
HG
Halldorsson GH
SS
Stacey SN
HH
Helgason H
SP
Sulem P
SL
Senter L
HH
He H
LS
Liyanarachchi S
RM
Ringel MD
AE
Aguillo E
PA
Panadero A
PE
Prats E
GA
Garcia-Castaño A
DJ
De Juan A
RF
Rivera F
XL
Xu L
KL
Kiemeney LA
EG
Eyjolfsson GI
SO
Sigurdardottir O
OI
Olafsson I
KH
Kristvinsson H
NR
Netea-Maier RT
JT
Jonsson T
MJ
Mayordomo JI
PT
Plantinga TS
HH
Hjartarson H
HJ
Hrafnkelsson J
SE
Sturgis EM
TU
Thorsteinsdottir U
RT
Rafnar T
DL
de la Chapelle A
SK
Stefansson K
Chapter II

Abstract

Summary of the research findings

The great majority of thyroid cancers are of the non-medullary type. Here we report findings from a genome-wide association study of non-medullary thyroid cancer, including in total 3,001 patients and 287,550 controls from five study groups of European descent. Our results yield five novel loci (all with Pcombined<3 × 10-8): 1q42.2 (rs12129938 in PCNXL2), 3q26.2 (rs6793295 a missense mutation in LRCC34 near TERC), 5q22.1 (rs73227498 between NREP and EPB41L4A), 10q24.33 (rs7902587 near OBFC1), and two independently associated variants at 15q22.33 (rs2289261 and rs56062135; both in SMAD3). We also confirm recently published association results from a Chinese study of a variant on 5p15.33 (rs2736100 near the TERT gene) and present a stronger association result for a moderately correlated variant (rs10069690; OR=1.20, P=3.2 × 10-7) based on our study of individuals of European ancestry. In combination, these results raise several opportunities for future studies of the pathogenesis of thyroid cancer.

2,637 European ancestry cases, 364 non-array typed, familial imputed Icelandic ancestry cases, 134,811 European ancestry controls, 152,739 non-array typed, familial imputed Icelandic ancestry controls.

Chapter III

Study Statistics

Key metrics and study information

290551
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
U.S., Netherlands, Iceland, Spain
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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