| Literature DB >> 23462292 |
Fredrick R Schumacher1, Zhaoming Wang, Rolf I Skotheim, Roelof Koster, Charles C Chung, Michelle A T Hildebrandt, Christian P Kratz, Anne C Bakken, D Timothy Bishop, Michael B Cook, R Loren Erickson, Sophie D Fosså, Mark H Greene, Kevin B Jacobs, Peter A Kanetsky, Laurence N Kolonel, Jennifer T Loud, Larissa A Korde, Loic Le Marchand, Juan Pablo Lewinger, Ragnhild A Lothe, Malcolm C Pike, Nazneen Rahman, Mark V Rubertone, Stephen M Schwartz, Kimberly D Siegmund, Eila C Skinner, Clare Turnbull, David J Van Den Berg, Xifeng Wu, Meredith Yeager, Katherine L Nathanson, Stephen J Chanock, Victoria K Cortessis, Katherine A McGlynn.
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.Entities:
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Year: 2013 PMID： 23462292 PMCID： PMC3674801 DOI： 10.1093/hmg/ddt109
Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150