@article{218d58e76e844cad838807ee2cd71b0d,
title = "Overlapping genetic architecture between Parkinson disease and melanoma",
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 × 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 × 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.",
keywords = "Genetic correlation, Melanoma, Parkinson disease, Polygenic, Shared genetic architecture, TWAS",
author = "{GenoMEL Consortium} and {Essen-Heidelberg Investigators} and {SDH Study Group} and {Q-MEGA and QTWIN Investigators} and {AMFS Investigators} and {ATHENS Melanoma Study Group} and {Melanoma-Meta-analysis Consortium} and {23andMe Research Team} and Umber Dube and Laura Ibanez and Budde, {John P.} and Benitez, {Bruno A.} and Davis, {Albert A.} and Oscar Harari and Iles, {Mark M.} and Law, {Matthew H.} and Brown, {Kevin M.} and Michelle Agee and Babak Alipanahi and Adam Auton and Bell, {Robert K.} and Katarzyna Bryc and Elson, {Sarah L.} and Pierre Fontanillas and Furlotte, {Nicholas A.} and Hinds, {David A.} and Huber, {Karen E.} and Aaron Kleinman and Litterman, {Nadia K.} and McCreight, {Jennifer C.} and McIntyre, {Matthew H.} and Mountain, {Joanna L.} and Noblin, {Elizabeth S.} and Northover, {Carrie A.M.} and Pitts, {Steven J.} and Sathirapongsasuti, {J. Fah} and Sazonova, {Olga V.} and Shelton, {Janie F.} and Suyash Shringarpure and Chao Tian and Tung, {Joyce Y.} and Vladimir Vacic and Wilson, {Catherine H.} and Bishop, {D. T.} and Lee, {J. E.} and M. Brossard and Martin, {N. G.} and Moses, {E. K.} and F. Song and Barrett, {J. H.} and R. Kumar and Easton, {D. F.} and Pharoah, {P. D.} and Swerdlow, {A. J.} and Kypreou, {K. P.} and Taylor, {J. C.} and M. Harland and Chen, {W. V.}",
note = "Publisher Copyright: {\textcopyright} 2019, Springer-Verlag GmbH Germany, part of Springer Nature.",
year = "2020",
month = feb,
day = "1",
doi = "10.1007/s00401-019-02110-z",
language = "English (US)",
volume = "139",
pages = "347--364",
journal = "Acta neuropathologica",
issn = "0001-6322",
publisher = "Springer Verlag",
number = "2",
}