Identification of four new susceptibility loci for testicular germ cell tumour
Menée sur 6 059 patients atteints d'une tumeur germinale du testicule et 19 094 témoins, cette étude d'association sur le génome entier identifie quatre nouveaux loci de susceptiblité à la maladie
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 [times] 10-9), 11q14.1 (rs7107174, GAB2, P=9.7 [times] 10-11), 16p13.13 (rs4561483, GSPT1, P=1.6 [times] 10-8) and 16q24.2 (rs55637647, ZFPM1, P=3.4 [times] 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.