Ερευνητικό υλικό ΕΚΠΑ

Overlapping genetic architecture between Parkinson disease and melanoma

Αγγλικά

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.

2020

Dube, Umber
Ibanez, Laura
Budde, John P.
Benitez, Bruno A.
and Davis, Albert A.
Harari, Oscar
Iles, Mark M.
Law,
Matthew H.
Brown, Kevin M.
Agee, Michelle
Alipanahi, Babak
and Auton, Adam
Bell, Robert K.
Bryc, Katarzyna
Elson, Sarah
L.
Fontanillas, Pierre
Furlotte, Nicholas A.
Hinds, David A.
and Huber, Karen E.
Kleinman, Aaron
Litterman, Nadia K. and
McCreight, Jennifer C.
McIntyre, Matthew H.
Mountain, Joanna L.
and Noblin, Elizabeth S.
Northover, Carrie A. M.
Pitts, Steven
J.
Sathirapongsasuti, J. Fah
Sazonova, Olga V.
Shelton,
Janie F.
Shringarpure, Suyash
Tian, Chao
Tung, Joyce Y. and
Vacic, Vladimir
Wilson, Catherine H.
Law, M. H.
Law, M. H.
and Bishop, D. T.
Lee, J. E.
Brossard, M.
Martin, N. G. and
Moses, E. K.
Song, F.
Barrett, J. H.
Kumar, R.
Easton,
D. F.
Pharoah, P. D.
Swerdlow, A. J.
Kypreou, K. P. and
Taylor, J. C.
Harland, M.
Randerson-Moor, J.
Akslen, L. A.
and Andresen, P. A.
Avril, M. F.
Azizi, E.
Scarra, G. B. and
Brown, K. M.
Debniak, T.
Duffy, D. L.
Elder, D. E.
Fang,
S.
Friedman, E.
Galan, P.
Ghiorzo, P.
Gillanders, E. M.
and Goldstein, A. M.
Gruis, N. A.
Hansson, J.
Helsing, P.
and Hocevar, M.
Hoiom, V.
Ingvar, C.
Kanetsky, P. A. and
Chen, W. V.
Landi, M. T.
Lang, J.
Lathrop, G. M. and
Lubinski, J.
Mackie, R. M.
Mann, G. J.
Molven, A. and
Montgomery, G. W.
Novakovic, S.
Olsson, H.
Puig, S. and
Puig-Butille, J. A.
Wu, W.
Qureshi, A. A.
Radford-Smith, G.
L.
Van der Stoep, N.
Van Doorn, R.
Whiteman, D. C. and
Craig, J. E.
Schadendorf, E.
Simms, L. A.
Burdon, K. P. and
Nyholt, D. R.
Pooley, K. A.
Orr, N.
Stratigos, A. J. and
Cust, A. E.
Ward, S. V.
Hayward, N. K.
Han, J.
Schulze,
H. J.
Dunning, A. M.
Bishop, J. A.
Demenais, F.
Amos, C.
I.
MacGregor, S.
Iles, M. M.
Cruchaga, Carlos
23andMe
Research Team
Melanoma Meta Analysis Consortium

Acta Neuropathologica

Springer-Verlag

139

2

347-364

Parkinson disease; Melanoma; Genetic correlation; Polygenic; TWAS;
Shared genetic architecture

https://doi.org/10.1007/s00401-019-02110-z

10.1007/s00401-019-02110-z

https://pergamos.lib.uoa.gr/uoa/dl/object/3189403