Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.
Nat Genet. 2010 Jul;42(7):604-7. doi: 10.1038/ng.607. Epub 2010 Jun 13.
We conducted a genome-wide association study for testicular germ cell tumor, genotyping 298,782 SNPs in 979 affected individuals and 4,947 controls from the UK and replicating associations in a further 664 cases and 3,456 controls. We identified three new susceptibility loci, two of which include genes that are involved in telomere regulation. We identified two independent signals within the TERT-CLPTM1L locus on chromosome 5, which has previously been associated with multiple other cancers (rs4635969, OR=1.54, P=1.14x10(-23); rs2736100, OR=1.33, P=7.55x10(-15)). We also identified a locus on chromosome 12 (rs2900333, OR=1.27, P=6.16x10(-10)) that contains ATF7IP, a regulator of TERT expression. Finally, we identified a locus on chromosome 9 (rs755383, OR=1.37, P=1.12x10(-23)), containing the sex determination gene DMRT1, which has been linked to teratoma susceptibility in mice.
我们进行了一项睾丸生殖细胞肿瘤的全基因组关联研究,对来自英国的 979 名患者和 4947 名对照者中的 298782 个 SNP 进行了基因分型,并在另外 664 名患者和 3456 名对照者中对关联进行了复制。我们发现了三个新的易感位点,其中两个包含涉及端粒调节的基因。我们在染色体 5 上的 TERT-CLPTM1L 基因座中发现了两个独立的信号,该基因座先前与多种其他癌症相关(rs4635969,OR=1.54,P=1.14x10(-23);rs2736100,OR=1.33,P=7.55x10(-15))。我们还在染色体 12 上发现了一个位点(rs2900333,OR=1.27,P=6.16x10(-10)),该位点包含 ATF7IP,是 TERT 表达的调节剂。最后,我们在染色体 9 上发现了一个位点(rs755383,OR=1.37,P=1.12x10(-23)),该位点包含性别决定基因 DMRT1,该基因与小鼠的畸胎瘤易感性有关。