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GWAS Study

A common variant at 8q24.21 is associated with renal cell cancer.

Gudmundsson J, Sulem P, Gudbjartsson DF et al.

24220699 PubMed ID
GWAS Study Type
73908 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
MG
Masson G
PV
Petursdottir V
HS
Hardarson S
GS
Gudjonsson SA
JH
Johannsdottir H
HH
Helgadottir HT
SS
Stacey SN
MO
Magnusson OT
HH
Helgason H
PA
Panadero A
VD
van der Zanden LF
AK
Aben KK
VS
Vermeulen SH
OE
Oosterwijk E
KA
Kong A
MJ
Mayordomo JI
SA
Sverrisdottir A
JE
Jonsson E
GT
Gudbjartsson T
EG
Einarsson GV
KL
Kiemeney LA
TU
Thorsteinsdottir U
RT
Rafnar T
SK
Stefansson K
Chapter II

Abstract

Summary of the research findings

Renal cell carcinoma (RCC) represents between 80 and 90% of kidney cancers. Previous genome-wide association studies of RCC have identified five variants conferring risk of the disease. Here we report the results from a discovery RCC genome-wide association study and replication analysis, including a total of 2,411 patients and 71,497 controls. One variant, rs35252396[CG] located at 8q24.21, is significantly associated with RCC after combining discovery and replication results (OR=1.27, P(combined)=5.4 × 10(-11)) and has an average risk allele frequency in controls of 46%. rs35252396[CG] does not have any strongly correlated variants in the genome and is located within a region predicted to have regulatory functions in several cell lines, including six originating from the kidney. This is the first RCC variant reported at 8q24.21 and it is largely independent (r(2)≤0.02) of the numerous previously reported cancer risk variants at this locus.

1,505 European ancestry cases, 67,725 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

73908
Total Participants
GWAS
Study Type
Yes
Replicated
906 European ancestry cases, 3,772 European ancestry controls
Replication Participants
European
Ancestry
Iceland, Netherlands, Spain
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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