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Identification of four new susceptibility loci for testicular germ cell tumour

Lookup NU author(s): Amy Lloyd, Dr Jérémie Nsengimana



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


© 2015 Macmillan Publishers Limited. All rights reserved.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.

Publication metadata

Author(s): Litchfield K, Holroyd A, Lloyd A, Broderick P, Nsengimana J, Eeles R, Easton DF, Dudakia D, Bishop DT, Reid A, Huddart RA, Grotmol T, Wiklund F, Shipley J, Houlston RS, Turnbull C

Publication type: Article

Publication status: Published

Journal: Nature Communications

Year: 2015

Volume: 6

Online publication date: 27/10/2015

Acceptance date: 17/09/2015

Date deposited: 10/06/2020

ISSN (electronic): 2041-1723

Publisher: Nature Publishing Group


DOI: 10.1038/ncomms9690

PubMed id: 26503584


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