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Genome-wide association studies (GWAS) have identified multiple risk loci for testicular germ cell tumour (TGCT), revealing a polygenic model of disease susceptibility strongly influenced by common variation. To identify additional single-nucleotide polymorphisms (SNPs) associated with TGCT, we conducted a multistage GWAS with a combined data set of >25,000 individuals (6,059 cases and 19,094 controls). We identified new risk loci for TGCT at 3q23 (rs11705932,  TFDP2, P =1.5 × 10 −9 ), 11q14.1 (rs7107174,  GAB2 ,  P =9.7 × 10 −11 ), 16p13.13 (rs4561483,  GSPT1 ,  P =1.6 × 10 −8 ) and 16q24.2 (rs55637647,  ZFPM1 ,  P =3.4 × 10 −9 ). We additionally present detailed functional analysis of these loci, identifying a statistically significant relationship between rs4561483 risk genotype and increased  GSPT1  expression in TGCT patient samples. These findings provide additional support for a polygenic model of TGCT risk and further insight into the biological basis of disease development.

Identification of four new susceptibility loci for testicular germ cell tumour