Rs4474514

Testicular germ cell tumor risk I("TGCT"; i.e. testicular cancer risk) was increased 3x per copy of the major (A) allele at rs3782179 and rs4474514 (OR = 3.08, CI: 2.29–4.13; OR = 3.07, CI = 2.29–4.13, respectively), based on a genome-wide scan of 277 primarily Caucasian TGCT cases and 919 controls. Men who have two copies of the common version of the c-KIT ligand KITLG gene have a 4.5-fold higher risk of testicular cancer than men who have two copies of the less common or minor version of the gene.

SNPs from the same gene were also implicated in testicular cancer risk in a study of 730 cases and 1,435 controls from the UK and replicating associations in a further 571 cases and 1,806 controls.

A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility.

Associations between variants in KITLG, SPRY4, BAK1, and DMRT1 and pediatric germ cell tumors.


 * is_associated_with_disease::Testicular cancer
 * is_associated_with_disease::Oligospermia