A genome-wide association study of testicular germ cell tumor.
We conducted a genome-wide association study for testicular germ cell tumor (TGCT), genotyping 307,666 SNPs in 730 cases and 1,435 controls from the UK and replicating associations in a further 571 cases and 1,806 controls. We found strong evidence for susceptibility loci on chromosome 5 (per allele OR = 1.37 (95% CI = 1.19-1.58), P = 3 x 10(-13)), chromosome 6 (OR = 1.50 (95% CI = 1.28-1.75), P = 10(-13)) and chromosome 12 (OR = 2.55 (95% CI = 2.05-3.19), P = 10(-31)). KITLG, encoding the ligand for the receptor tyrosine kinase KIT, which has previously been implicated in the pathogenesis of TGCT and the biology of germ cells, may explain the association on chromosome 12.
Rapley
Elizabeth A
EA
Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.
Turnbull
Clare
C
Al Olama
Ali Amin
AA
Dermitzakis
Emmanouil T
ET
Linger
Rachel
R
Huddart
Robert A
RA
Renwick
Anthony
A
Hughes
Deborah
D
Hines
Sarah
S
Seal
Sheila
S
Morrison
Jonathan
J
Nsengimana
Jeremie
J
Deloukas
Panagiotis
P
Rahman
Nazneen
N
Bishop
D Timothy
DT
Easton
Douglas F
DF
Stratton
Michael R
MR
D016022:Case-Control Studies; D002881:Chromosomes, Human, Pair 12; D002895:Chromosomes, Human, Pair 5; D002896:Chromosomes, Human, Pair 6; D055106:Genome-Wide Association Study; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D009373:Neoplasms, Germ Cell and Embryonal / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D019089:Stem Cell Factor / Q000235:genetics; D013736:Testicular Neoplasms / Q000235:genetics*; D006113:United Kingdom; D050998:bcl-2 Homologous Antagonist-Killer Protein / Q000235:genetics
C494772:BAK1 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D009419:Nerve Tissue Proteins; C499038:SPRY4 protein, human; D019089:Stem Cell Factor; D050998:bcl-2 Homologous Antagonist-Killer Protein