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- Litchfield, K (author)
Identification of four new susceptibility loci for testicular germ cell tumour
- Article/chapterEnglish2015
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- 2015-10-27
- Springer Science and Business Media LLC,2015
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- LIBRIS-ID:oai:prod.swepub.kib.ki.se:132476333
- http://kipublications.ki.se/Default.aspx?queryparsed=id:132476333URI
- https://doi.org/10.1038/ncomms9690DOI
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- Language:English
- Summary in:English
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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.
Added entries (persons, corporate bodies, meetings, titles ...)
- Holroyd, A (author)
- Lloyd, A (author)
- Broderick, P (author)
- Nsengimana, J (author)
- Eeles, R (author)
- Easton, DF (author)
- Dudakia, D (author)
- Bishop, DT (author)
- Reid, A (author)
- Huddart, RA (author)
- Grotmol, T (author)
- Wiklund, FKarolinska Institutet (author)
- Shipley, J (author)
- Houlston, RS (author)
- Turnbull, C (author)
- Karolinska Institutet (creator_code:org_t)
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- In:Nature communications: Springer Science and Business Media LLC6, s. 8690-2041-1723
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- Easton, DF
- Dudakia, D
- Bishop, DT
- Reid, A
- Huddart, RA
- Grotmol, T
- Wiklund, F
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- Turnbull, C
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