Imperial College London
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DrCliveHoggart

Faculty of Medicine, Department of Infectious Disease

Honorary Research Officer
 
 
 
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Contact

 

+44 (0)20 7594 3915c.hoggart

 
 
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Location

 

231Norfolk PlaceSt Mary's Campus

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Summary

 

Publications

Citation

BibTex format

@article{Cust:2018:10.1016/j.jid.2018.05.023,
author = {Cust, AE and Drummond, M and Kanetsky, PA and Goldstein, AM and Barrett, JH and MacGregor, S and Law, MH and Iles, MM and Bui, M and Hopper, JL and Brossard, M and Demenais, F and Taylor, JC and Hoggart, C and Brown, KM and Landi, MT and Newton-Bishop, JA and Mann, GJ and Bishop, DT},
doi = {10.1016/j.jid.2018.05.023},
journal = {Journal of Investigative Dermatology},
pages = {2617--2624},
title = {Assessing the incremental contribution of common genomic variants to melanoma risk prediction in two population-based studies},
url = {http://dx.doi.org/10.1016/j.jid.2018.05.023},
volume = {138},
year = {2018}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - It is unclear to what degree genomic and traditional (phenotypic and environmental) risk factors overlap in their prediction of melanoma risk. We evaluated the incremental contribution of common genomic variants (in pigmentation, nevus, and other pathways) and their overlap with traditional risk factors, using data from two population-based case-control studies from Australia (n = 1,035) and the United Kingdom (n = 1,460) that used the same questionnaires. Polygenic risk scores were derived from 21 gene regions associated with melanoma and odds ratios from published meta-analyses. Logistic regression models were adjusted for age, sex, center, and ancestry. Adding the polygenic risk score to a model with traditional risk factors increased the area under the receiver operating characteristic curve (AUC) by 2.3% (P = 0.003) for Australia and by 2.8% (P = 0.002) for Leeds. Gene variants in the pigmentation pathway, particularly MC1R, were responsible for most of the incremental improvement. In a cross-tabulation of polygenic by traditional tertile risk scores, 59% (Australia) and 49% (Leeds) of participants were categorized in the same (concordant) tertile. Of participants with low traditional risk, 9% (Australia) and 21% (Leeds) had high polygenic risk. Testing of genomic variants can identify people who are susceptible to melanoma despite not having a traditional phenotypic risk profile.
AU  - Cust,AE
AU  - Drummond,M
AU  - Kanetsky,PA
AU  - Goldstein,AM
AU  - Barrett,JH
AU  - MacGregor,S
AU  - Law,MH
AU  - Iles,MM
AU  - Bui,M
AU  - Hopper,JL
AU  - Brossard,M
AU  - Demenais,F
AU  - Taylor,JC
AU  - Hoggart,C
AU  - Brown,KM
AU  - Landi,MT
AU  - Newton-Bishop,JA
AU  - Mann,GJ
AU  - Bishop,DT
DO  - 10.1016/j.jid.2018.05.023
EP  - 2624
PY  - 2018///
SN  - 0022-202X
SP  - 2617
TI  - Assessing the incremental contribution of common genomic variants to melanoma risk prediction in two population-based studies
T2  - Journal of Investigative Dermatology
UR  - http://dx.doi.org/10.1016/j.jid.2018.05.023
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000450431000033&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - http://hdl.handle.net/10044/1/66082
VL  - 138
ER  -
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