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- Title
Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23.
- Authors
Schumacher, Fredrick R.; Wang, Zhaoming; Skotheim, Rolf I.; Koster, Roelof; Chung, Charles C.; Hildebrandt, Michelle A. T.; Kratz, Christian P.; Bakken, Anne C.; Timothy Bishop, D.; Cook, Michael B.; Erickson, R. Loren; Fosså, Sophie D.; Greene, Mark H.; Jacobs, Kevin B.; Kanetsky, Peter A.; Kolonel, Laurence N.; Loud, Jennifer T.; Korde, Larissa A.; Le Marchand, Loic; Pablo Lewinger, Juan
- 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 × 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 × 10−3). Here, we provide substantial evidence for the association between UCK2 genetic variation and TGCT risk.
- Publication
Human Molecular Genetics, 2013, Vol 22, Issue 13, p2748
- ISSN
0964-6906
- Publication type
Article
- DOI
10.1093/hmg/ddt109