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 Detalle_Publicacion

Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson´s disease

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 Our analysis of DNM3 in previously unpublished data does not show an effect on age at onset in LRRK2 p.G2019S carriers; however, the inter-study heterogeneity may indicate ethnic or population-specific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, Volume 97, January 2021, Pages 148.e17-148.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

Autoría

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

TOLOSA, EDUARDO

EZQUERRA, MARIO

ROMDHAN, SAWSSAN BEN

BENMAHDJOUB, MUSTAPHA

AREZKI, MOHAMED

MHIRI, CHOKRI

HARDY, JOHN