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Joint effect of multiple common SNPs predicts melanoma susceptibility.

dc.contributor.author Fang, Shenying
dc.contributor.author Han, Jiali
dc.contributor.author Zhang, Mingfeng
dc.contributor.author Wang, Li-e
dc.contributor.author Wei, Qingyi
dc.contributor.author Amos, Christopher I
dc.contributor.author Lee, Jeffrey E
dc.date.accessioned 2019-02-01T15:15:58Z
dc.date.available 2019-02-01T15:15:58Z
dc.date.issued 2013-01
dc.identifier PONE-D-13-45096
dc.identifier.issn 1932-6203
dc.identifier.issn 1932-6203
dc.identifier.uri https://hdl.handle.net/10161/17998
dc.description.abstract Single genetic variants discovered so far have been only weakly associated with melanoma. This study aims to use multiple single nucleotide polymorphisms (SNPs) jointly to obtain a larger genetic effect and to improve the predictive value of a conventional phenotypic model. We analyzed 11 SNPs that were associated with melanoma risk in previous studies and were genotyped in MD Anderson Cancer Center (MDACC) and Harvard Medical School investigations. Participants with ≥15 risk alleles were 5-fold more likely to have melanoma compared to those carrying ≤6. Compared to a model using the most significant single variant rs12913832, the increase in predictive value for the model using a polygenic risk score (PRS) comprised of 11 SNPs was 0.07(95% CI, 0.05-0.07). The overall predictive value of the PRS together with conventional phenotypic factors in the MDACC population was 0.69 (95% CI, 0.64-0.69). PRS significantly improved the risk prediction and reclassification in melanoma as compared with the conventional model. Our study suggests that a polygenic profile can improve the predictive value of an individual gene polymorphism and may be able to significantly improve the predictive value beyond conventional phenotypic melanoma risk factors.
dc.language eng
dc.publisher Public Library of Science (PLoS)
dc.relation.ispartof PloS one
dc.relation.isversionof 10.1371/journal.pone.0085642
dc.subject Humans
dc.subject Melanoma
dc.subject Genetic Predisposition to Disease
dc.subject Computational Biology
dc.subject Phenotype
dc.subject Polymorphism, Single Nucleotide
dc.subject Middle Aged
dc.subject Female
dc.subject Male
dc.title Joint effect of multiple common SNPs predicts melanoma susceptibility.
dc.type Journal article
duke.contributor.id Wei, Qingyi|0632334
dc.date.updated 2019-02-01T15:15:57Z
pubs.begin-page e85642
pubs.issue 12
pubs.organisational-group School of Medicine
pubs.organisational-group Duke
pubs.organisational-group Duke Cancer Institute
pubs.organisational-group Institutes and Centers
pubs.organisational-group Population Health Sciences
pubs.organisational-group Basic Science Departments
pubs.organisational-group Medicine, Medical Oncology
pubs.organisational-group Medicine
pubs.organisational-group Clinical Science Departments
pubs.publication-status Published
pubs.volume 8
duke.contributor.orcid Wei, Qingyi|0000-0002-3845-9445


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