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Nature Research, Nature Communications, 1(6), 2015

DOI: 10.1038/ncomms9690

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Identification of four new susceptibility loci for testicular germ cell tumour

Journal article published in 2015 by Kevin Litchfield, Amy Holroyd, Amy Lloyd, Peter Broderick ORCID, Jérémie Nsengimana ORCID, Rosalind Eeles, Douglas F. Easton, Darshna Dudakia, D. Timothy Bishop ORCID, D. Timothy Bishop, Alison Reid, Robert A. Huddart, Tom Grotmol, Fredrik Wiklund, Janet Shipley and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

AbstractGenome-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.