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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 ¼ 724) and meta-analyzed our data with previously published data (n ¼ 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 Our analysis of DNM3 in previously unpublished data does not show an effect on age at onset in LRRK2 p.G2019S carriers; however, the inter-study heterogeneity may indicate ethnic or population-specific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 vari- ation in LRRK2 and VAMP4 in disease risk
Fuente: Neurobiology of Aging, 2021, 97, 148.148.e-7-148.e24
Editorial: Elsevier
Fecha de publicación: 01/01/2021
Nº de páginas: 8
Tipo de publicación: Artículo de Revista
DOI: 10.1016/j.neurobiolaging.2020.07.002
ISSN: 0197-4580,1558-1497
Url de la publicación: https://doi.org/10.1016/j.neurobiolaging.2020.07.002
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BROWN, EMMELINE E.
BLAUWENDRAAT, CORNELIS
TRINH, JOANNE
RIZIG, MIE
NALLS, MIKE A.
LEVEILLE, ETIENNE
RUSKEY, JENNIFER A.
JONVIK, HALLGEIR
TAN, MANUELA M.X.
BANDRES-CIGA, SARA
HASSIN-BAER, SHARON
BROCKMANN, KATHRIN
JON INFANTE CEBERIO
TOLOSA, EDUARDO
EZQUERRA, MARIO
ROMDHAN, SAWSSAN BEN
BENMAHDJOUB, MUSTAPHA
AREZKI, MOHAMED
MHIRI, CHOKRI
HARDY, JOHN
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