Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23 Journal Article


Authors: Schumacher, F. R.; Wang, Z.; Skotheim, R. I.; Koster, R.; Chung, C. C.; Hildebrandt, M. A. T.; Kratz, C. P.; Bakken, A. C.; Timothy Bishop, D.; Cook, M. B.; Loren Erickson, R.; Fossa, S. D.; Greene, M. H.; Jacobs, K. B.; Kanetsky, P. A.; Kolonel, L. N.; Loud, J. T.; Korde, L. A.; Le Marchand, L.; Lewinger, J. P.; Lothe, R. A.; Pike, M. C.; Rahman, N.; Rubertone, M. V.; Schwartz, S. M.; Siegmund, K. D.; Skinner, E. C.; Turnbull, C.; Van Den Berg, D. J.; Wu, X.; Yeager, M.; Nathanson, K. L.; Chanock, S. J.; Cortessis, V. K.; McGlynn, K. A.
Article Title: Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23
Abstract: Genome-wide association studies (GWASs) have identified multiple common genetic variants associated with an increased risk of testicular germ cell tumors (TGCTs). A previous GWAS reported a possible TGCT susceptibility locus on chromosome 1q23 in the UCK2 gene, but failed to reach genome-wide significance following replication. We interrogated this region by conducting a meta-analysis of two independent GWASs including a total of 940 TGCT cases and 1559 controls for 122 single-nucleotide polymorphisms (SNPs) on chromosome 1q23 and followed up the most significant SNPs in an additional 2202 TGCT cases and 2386 controls from four case-control studies. We observed genome-wide significant associations for several UCK2 markers, the most significant of which was for rs3790665 (PCombined = 6.0 x 10-9). Additional support is provided from an independent familial study of TGCT where a significant over-transmission for rs3790665 with TGCT risk was observed (PFBAT = 2.3 x 10-3). Here, we provide substantial evidence for the association between UCK2 genetic variation and TGCT risk.
Journal Title: Human Molecular Genetics
Volume: 22
Issue: 13
ISSN: 0964-6906
Publisher: Oxford University Press  
Date Published: 2013-07-01
Start Page: 2748
End Page: 2753
Language: English
DOI: 10.1093/hmg/ddt109
PROVIDER: scopus
PMCID: PMC3674801
PUBMED: 23462292
DOI/URL:
Notes: --- - Cited By (since 1996):2 - "Export Date: 1 July 2013" - "CODEN: HMGEE" - "Source: Scopus"
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  1. Malcolm Pike
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