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GWAS Study

Discovery of common variants associated with low TSH levels and thyroid cancer risk.

Gudmundsson J, Sulem P, Gudbjartsson DF et al.

22267200 PubMed ID
GWAS Study Type
71531 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

GJ
Gudmundsson J
SP
Sulem P
GD
Gudbjartsson DF
JJ
Jonasson JG
MG
Masson G
HH
He H
JA
Jonasdottir A
SA
Sigurdsson A
SS
Stacey SN
JH
Johannsdottir H
HH
Helgadottir HT
LW
Li W
NR
Nagy R
RM
Ringel MD
KR
Kloos RT
DV
de Visser MC
PT
Plantinga TS
DH
den Heijer M
AE
Aguillo E
PA
Panadero A
PE
Prats E
GA
Garcia-Castaño A
DJ
De Juan A
RF
Rivera F
WG
Walters GB
BH
Bjarnason H
TL
Tryggvadottir L
EG
Eyjolfsson GI
BU
Bjornsdottir US
HH
Holm H
OI
Olafsson I
KK
Kristjansson K
KH
Kristvinsson H
MO
Magnusson OT
TG
Thorleifsson G
GJ
Gulcher JR
KA
Kong A
KL
Kiemeney LA
JT
Jonsson T
HH
Hjartarson H
MJ
Mayordomo JI
NR
Netea-Maier RT
DL
de la Chapelle A
HJ
Hrafnkelsson J
TU
Thorsteinsdottir U
RT
Rafnar T
SK
Stefansson K
Chapter II

Abstract

Summary of the research findings

To search for sequence variants conferring risk of nonmedullary thyroid cancer, we focused our analysis on 22 SNPs with a P < 5 × 10(-8) in a genome-wide association study on levels of thyroid stimulating hormone (TSH) in 27,758 Icelanders. Of those, rs965513 has previously been shown to associate with thyroid cancer. The remaining 21 SNPs were genotyped in 561 Icelandic individuals with thyroid cancer (cases) and up to 40,013 controls. Variants suggestively associated with thyroid cancer (P < 0.05) were genotyped in an additional 595 non-Icelandic cases and 2,604 controls. After combining the results, three variants were shown to associate with thyroid cancer: rs966423 on 2q35 (OR = 1.34; P(combined) = 1.3 × 10(-9)), rs2439302 on 8p12 (OR = 1.36; P(combined) = 2.0 × 10(-9)) and rs116909374 on 14q13.3 (OR = 2.09; P(combined) = 4.6 × 10(-11)), a region previously reported to contain an uncorrelated variant conferring risk of thyroid cancer. A strong association (P = 9.1 × 10(-91)) was observed between rs2439302 on 8p12 and expression of NRG1, which encodes the signaling protein neuregulin 1, in blood.

27,758 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

71531
Total Participants
GWAS
Study Type
Yes
Replicated
1,156 European ancestry cases, up to 42,617 European ancestry controls
Replication Participants
European
Ancestry
U.S., Iceland, Netherlands, Spain
Recruitment Country
Chapter IV

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