@article{3189403,
    title = "Overlapping genetic architecture between Parkinson disease and melanoma",
    author = "Dube, Umber and Ibanez, Laura and Budde, John P. and Benitez, Bruno A. and and Davis, Albert A. and Harari, Oscar and Iles, Mark M. and Law, and Matthew H. and Brown, Kevin M. and Agee, Michelle and Alipanahi, Babak and and Auton, Adam and Bell, Robert K. and Bryc, Katarzyna and Elson, Sarah and L. and Fontanillas, Pierre and Furlotte, Nicholas A. and Hinds, David A. and and Huber, Karen E. and Kleinman, Aaron and Litterman, Nadia K. and and McCreight, Jennifer C. and McIntyre, Matthew H. and Mountain, Joanna L. and and Noblin, Elizabeth S. and Northover, Carrie A. M. and Pitts, Steven and J. and Sathirapongsasuti, J. Fah and Sazonova, Olga V. and Shelton, and Janie F. and Shringarpure, Suyash and Tian, Chao and Tung, Joyce Y. and and Vacic, Vladimir and Wilson, Catherine H. and Law, M. H. and Law, M. H. and and Bishop, D. T. and Lee, J. E. and Brossard, M. and Martin, N. G. and and Moses, E. K. and Song, F. and Barrett, J. H. and Kumar, R. and Easton, and D. F. and Pharoah, P. D. and Swerdlow, A. J. and Kypreou, K. P. and and Taylor, J. C. and Harland, M. and Randerson-Moor, J. and Akslen, L. A. and and Andresen, P. A. and Avril, M. F. and Azizi, E. and Scarra, G. B. and and Brown, K. M. and Debniak, T. and Duffy, D. L. and Elder, D. E. and Fang, and S. and Friedman, E. and Galan, P. and Ghiorzo, P. and Gillanders, E. M. and and Goldstein, A. M. and Gruis, N. A. and Hansson, J. and Helsing, P. and and Hocevar, M. and Hoiom, V. and Ingvar, C. and Kanetsky, P. A. and and Chen, W. V. and Landi, M. T. and Lang, J. and Lathrop, G. M. and and Lubinski, J. and Mackie, R. M. and Mann, G. J. and Molven, A. and and Montgomery, G. W. and Novakovic, S. and Olsson, H. and Puig, S. and and Puig-Butille, J. A. and Wu, W. and Qureshi, A. A. and Radford-Smith, G. and L. and Van der Stoep, N. and Van Doorn, R. and Whiteman, D. C. and and Craig, J. E. and Schadendorf, E. and Simms, L. A. and Burdon, K. P. and and Nyholt, D. R. and Pooley, K. A. and Orr, N. and Stratigos, A. J. and and Cust, A. E. and Ward, S. V. and Hayward, N. K. and Han, J. and Schulze, and H. J. and Dunning, A. M. and Bishop, J. A. and Demenais, F. and Amos, C. and I. and MacGregor, S. and Iles, M. M. and Cruchaga, Carlos and 23andMe and Research Team and Melanoma Meta Analysis Consortium",
    journal = "Acta Neuropathologica",
    year = "2020",
    volume = "139",
    number = "2",
    pages = "347-364",
    publisher = "Springer-Verlag",
    issn = "0001-6322, 1432-0533",
    doi = "10.1007/s00401-019-02110-z",
    keywords = "Parkinson disease; Melanoma; Genetic correlation; Polygenic; TWAS;
Shared genetic architecture",
    abstract = "Epidemiologic studies have reported inconsistent results regarding an
association between Parkinson disease (PD) and cutaneous melanoma
(melanoma). Identifying shared genetic architecture between these
diseases can support epidemiologic findings and identify common risk
genes and biological pathways. Here, we apply polygenic, linkage
disequilibrium-informed methods to the largest available case-control,
genome-wide association study summary statistic data for melanoma and
PD. We identify positive and significant genetic correlation
(correlation: 0.17, 95% CI 0.10-0.24; P = 4.09 x 10(-06)) between
melanoma and PD. We further demonstrate melanoma and PD-inferred gene
expression to overlap across tissues (correlation: 0.14, 95% CI 0.06 to
0.22; P = 7.87 x 10(-04)) and highlight seven genes including PIEZO1,
TRAPPC2L, and SOX6 as potential mediators of the genetic correlation
between melanoma and PD. These findings demonstrate specific, shared
genetic architecture between PD and melanoma that manifests at the level
of gene expression."
}