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@ARTICLE{Brown:155708,
author = {Brown, Emmeline E and Blauwendraat, Cornelis and Trinh,
Joanne and Rizig, Mie and Nalls, Mike A and Leveille,
Etienne and Ruskey, Jennifer A and Jonvik, Hallgeir and Tan,
Manuela M X and Bandres-Ciga, Sara and Hassin-Baer, Sharon
and Brockmann, Kathrin and Infante, Jon and Tolosa, Eduardo
and Ezquerra, Mario and Ben Romdhan, Sawssan and
Benmahdjoub, Mustapha and Arezki, Mohamed and Mhiri, Chokri
and Hardy, John and Singleton, Andrew B and Alcalay, Roy N
and Gasser, Thomas and Grosset, Donald G and Williams, Nigel
M and Pittman, Alan and Gan-Or, Ziv and Fernández-Santiago,
Rubén and Brice, Alexis and Lesage, Suzanne and Farrer,
Matthew and Wood, Nicholas and Morris, Huw R},
collaboration = {Consortium, International Parkinson Disease Genomics},
title = {{A}nalysis of {DNM}3 and {VAMP}4 as genetic modifiers of
{LRRK}2 {P}arkinson's disease.},
journal = {Neurobiology of aging},
volume = {97},
issn = {0197-4580},
address = {Amsterdam [u.a.]},
publisher = {Elsevier Science},
reportid = {DZNE-2021-00876},
pages = {148.e17 - 148.e24},
year = {2021},
abstract = {The LRRK2 gene has rare (p.G2019S) and common risk variants
for Parkinson's disease (PD). DNM3 has previously been
reported as a genetic modifier of the age at onset in PD
patients carrying the LRRK2 p.G2019S mutation. We analyzed
this effect in a new cohort of LRRK2 p.G2019S heterozygotes
(n = 724) and meta-analyzed our data with previously
published data (n = 754). VAMP4 is in close proximity to
DNM3, and was associated with PD in a recent study, so it is
possible that variants in this gene may be important. We
also analyzed the effect of VAMP4 rs11578699 on LRRK2
penetrance. Our analysis of DNM3 in previously unpublished
data does not show an effect on age at onset in LRRK2
p.G2019S carriers; however, the inter-study heterogeneity
may indicate ethnic or population-specific effects of DNM3.
There was no evidence for linkage disequilibrium between
DNM3 and VAMP4. Analysis of sporadic patients stratified by
the risk variant LRRK2 rs10878226 indicates a possible
interaction between common variation in LRRK2 and VAMP4 in
disease risk.},
keywords = {Age of Onset / Aged / Cohort Studies / Dynamin III:
genetics / Epistasis, Genetic: genetics / Female / Genetic
Association Studies / Genetic Predisposition to Disease:
genetics / Genetic Variation: genetics / Humans /
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2:
genetics / Linkage Disequilibrium: genetics / Male / Middle
Aged / Parkinson Disease: epidemiology / Parkinson Disease:
ethnology / Parkinson Disease: genetics / R-SNARE Proteins:
genetics / Risk / Genetic modifiers (Other) / Leucine-rich
repeat kinase 2 (Other) / Parkinsonism (Other) /
Parkinson’s disease (Other) / R-SNARE Proteins (NLM
Chemicals) / VAMP4 protein, human (NLM Chemicals) / LRRK2
protein, human (NLM Chemicals) / Leucine-Rich Repeat
Serine-Threonine Protein Kinase-2 (NLM Chemicals) / Dynamin
III (NLM Chemicals)},
cin = {AG Gasser},
ddc = {610},
cid = {I:(DE-2719)1210000},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:32873436},
pmc = {pmc:PMC7762821},
doi = {10.1016/j.neurobiolaging.2020.07.002},
url = {https://pub.dzne.de/record/155708},
}