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. [PMID 19483682]
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.[PMID 19483681][PMID 21551455] A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility.
[PMID 22072546] Associations between variants in KITLG, SPRY4, BAK1, and DMRT1 and pediatric germ cell tumors.
[PMID 24083421] SNPs in KIT and KITLG genes may be associated with oligospermia in Chinese population
[PMID 23771924] Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.