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Quantifying the heritability of testicular germ cell tumour using both population-based and genomic approaches.

Litchfield, Kevin; Thomsen, Hauke; Mitchell, Jonathan S; Sundquist, Jan LU ; Houlston, Richard S; Hemminki, Kari LU and Turnbull, Clare (2015) In Scientific Reports 5.
Abstract
A sizable fraction of testicular germ cell tumour (TGCT) risk is expected to be explained by heritable factors. Recent genome-wide association studies (GWAS) have successfully identified a number of common SNPs associated with TGCT. It is however, unclear how much common variation there is left to be accounted for by other, yet to be identified, common SNPs and what contribution common genetic variation makes to the heritable risk of TGCT. We approached this question using two complimentary analytical techniques. We undertook a population-based analysis of the Swedish family-cancer database, through which we estimated that the heritability of TGCT at 48.9% (CI:47.2%-52.3%). We also applied Genome-Wide Complex Trait Analysis to 922 cases... (More)
A sizable fraction of testicular germ cell tumour (TGCT) risk is expected to be explained by heritable factors. Recent genome-wide association studies (GWAS) have successfully identified a number of common SNPs associated with TGCT. It is however, unclear how much common variation there is left to be accounted for by other, yet to be identified, common SNPs and what contribution common genetic variation makes to the heritable risk of TGCT. We approached this question using two complimentary analytical techniques. We undertook a population-based analysis of the Swedish family-cancer database, through which we estimated that the heritability of TGCT at 48.9% (CI:47.2%-52.3%). We also applied Genome-Wide Complex Trait Analysis to 922 cases and 4,842 controls to estimate the heritability of TGCT. The heritability explained by known common risk SNPs identified by GWAS was 9.1%, whereas the heritability explained by all common SNPs was 37.4% (CI:27.6%-47.2%). These complementary findings indicate that the known TGCT SNPs only explain a small proportion of the heritability and many additional common SNPs remain to be identified. The data also suggests that a fraction of the heritability of TGCT is likely to be explained by other classes of genetic variation, such as rare disease-causing alleles. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Scientific Reports
volume
5
publisher
Nature Publishing Group
external identifiers
  • pmid:26349679
  • wos:000360901200001
  • scopus:84941312496
ISSN
2045-2322
DOI
10.1038/srep13889
language
English
LU publication?
yes
id
f78585bb-4584-4309-8302-a2fe8359aaf2 (old id 8042861)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/26349679?dopt=Abstract
date added to LUP
2015-10-04 16:15:15
date last changed
2017-10-22 04:11:51
@article{f78585bb-4584-4309-8302-a2fe8359aaf2,
  abstract     = {A sizable fraction of testicular germ cell tumour (TGCT) risk is expected to be explained by heritable factors. Recent genome-wide association studies (GWAS) have successfully identified a number of common SNPs associated with TGCT. It is however, unclear how much common variation there is left to be accounted for by other, yet to be identified, common SNPs and what contribution common genetic variation makes to the heritable risk of TGCT. We approached this question using two complimentary analytical techniques. We undertook a population-based analysis of the Swedish family-cancer database, through which we estimated that the heritability of TGCT at 48.9% (CI:47.2%-52.3%). We also applied Genome-Wide Complex Trait Analysis to 922 cases and 4,842 controls to estimate the heritability of TGCT. The heritability explained by known common risk SNPs identified by GWAS was 9.1%, whereas the heritability explained by all common SNPs was 37.4% (CI:27.6%-47.2%). These complementary findings indicate that the known TGCT SNPs only explain a small proportion of the heritability and many additional common SNPs remain to be identified. The data also suggests that a fraction of the heritability of TGCT is likely to be explained by other classes of genetic variation, such as rare disease-causing alleles.},
  articleno    = {13889},
  author       = {Litchfield, Kevin and Thomsen, Hauke and Mitchell, Jonathan S and Sundquist, Jan and Houlston, Richard S and Hemminki, Kari and Turnbull, Clare},
  issn         = {2045-2322},
  language     = {eng},
  publisher    = {Nature Publishing Group},
  series       = {Scientific Reports},
  title        = {Quantifying the heritability of testicular germ cell tumour using both population-based and genomic approaches.},
  url          = {http://dx.doi.org/10.1038/srep13889},
  volume       = {5},
  year         = {2015},
}