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000155708 0247_ $$2doi$$a10.1016/j.neurobiolaging.2020.07.002
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000155708 037__ $$aDZNE-2021-00876
000155708 041__ $$aEnglish
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000155708 1001_ $$aBrown, Emmeline E$$b0
000155708 245__ $$aAnalysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease.
000155708 260__ $$aAmsterdam [u.a.]$$bElsevier Science$$c2021
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000155708 520__ $$aThe LRRK2 gene has rare (p.G2019S) and common risk variants for Parkinson's disease (PD). DNM3 has previously been reported as a genetic modifier of the age at onset in PD patients carrying the LRRK2 p.G2019S mutation. We analyzed this effect in a new cohort of LRRK2 p.G2019S heterozygotes (n = 724) and meta-analyzed our data with previously published data (n = 754). VAMP4 is in close proximity to DNM3, and was associated with PD in a recent study, so it is possible that variants in this gene may be important. We also analyzed the effect of VAMP4 rs11578699 on LRRK2 penetrance. Our analysis of DNM3 in previously unpublished data does not show an effect on age at onset in LRRK2 p.G2019S carriers; however, the inter-study heterogeneity may indicate ethnic or population-specific effects of DNM3. There was no evidence for linkage disequilibrium between DNM3 and VAMP4. Analysis of sporadic patients stratified by the risk variant LRRK2 rs10878226 indicates a possible interaction between common variation in LRRK2 and VAMP4 in disease risk.
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000155708 650_7 $$2Other$$aGenetic modifiers
000155708 650_7 $$2Other$$aLeucine-rich repeat kinase 2
000155708 650_7 $$2Other$$aParkinsonism
000155708 650_7 $$2Other$$aParkinson’s disease
000155708 650_7 $$2NLM Chemicals$$aR-SNARE Proteins
000155708 650_7 $$2NLM Chemicals$$aVAMP4 protein, human
000155708 650_7 $$0EC 2.7.11.1$$2NLM Chemicals$$aLRRK2 protein, human
000155708 650_7 $$0EC 2.7.11.1$$2NLM Chemicals$$aLeucine-Rich Repeat Serine-Threonine Protein Kinase-2
000155708 650_7 $$0EC 3.6.5.5$$2NLM Chemicals$$aDynamin III
000155708 650_2 $$2MeSH$$aAge of Onset
000155708 650_2 $$2MeSH$$aAged
000155708 650_2 $$2MeSH$$aCohort Studies
000155708 650_2 $$2MeSH$$aDynamin III: genetics
000155708 650_2 $$2MeSH$$aEpistasis, Genetic: genetics
000155708 650_2 $$2MeSH$$aFemale
000155708 650_2 $$2MeSH$$aGenetic Association Studies
000155708 650_2 $$2MeSH$$aGenetic Predisposition to Disease: genetics
000155708 650_2 $$2MeSH$$aGenetic Variation: genetics
000155708 650_2 $$2MeSH$$aHumans
000155708 650_2 $$2MeSH$$aLeucine-Rich Repeat Serine-Threonine Protein Kinase-2: genetics
000155708 650_2 $$2MeSH$$aLinkage Disequilibrium: genetics
000155708 650_2 $$2MeSH$$aMale
000155708 650_2 $$2MeSH$$aMiddle Aged
000155708 650_2 $$2MeSH$$aParkinson Disease: epidemiology
000155708 650_2 $$2MeSH$$aParkinson Disease: ethnology
000155708 650_2 $$2MeSH$$aParkinson Disease: genetics
000155708 650_2 $$2MeSH$$aR-SNARE Proteins: genetics
000155708 650_2 $$2MeSH$$aRisk
000155708 7001_ $$0P:(DE-2719)2810837$$aBlauwendraat, Cornelis$$b1$$udzne
000155708 7001_ $$aTrinh, Joanne$$b2
000155708 7001_ $$aRizig, Mie$$b3
000155708 7001_ $$aNalls, Mike A$$b4
000155708 7001_ $$aLeveille, Etienne$$b5
000155708 7001_ $$aRuskey, Jennifer A$$b6
000155708 7001_ $$aJonvik, Hallgeir$$b7
000155708 7001_ $$aTan, Manuela M X$$b8
000155708 7001_ $$aBandres-Ciga, Sara$$b9
000155708 7001_ $$aHassin-Baer, Sharon$$b10
000155708 7001_ $$0P:(DE-2719)2811916$$aBrockmann, Kathrin$$b11$$udzne
000155708 7001_ $$aInfante, Jon$$b12
000155708 7001_ $$aTolosa, Eduardo$$b13
000155708 7001_ $$aEzquerra, Mario$$b14
000155708 7001_ $$aBen Romdhan, Sawssan$$b15
000155708 7001_ $$aBenmahdjoub, Mustapha$$b16
000155708 7001_ $$aArezki, Mohamed$$b17
000155708 7001_ $$aMhiri, Chokri$$b18
000155708 7001_ $$aHardy, John$$b19
000155708 7001_ $$aSingleton, Andrew B$$b20
000155708 7001_ $$aAlcalay, Roy N$$b21
000155708 7001_ $$0P:(DE-2719)2320009$$aGasser, Thomas$$b22$$udzne
000155708 7001_ $$aGrosset, Donald G$$b23
000155708 7001_ $$aWilliams, Nigel M$$b24
000155708 7001_ $$aPittman, Alan$$b25
000155708 7001_ $$aGan-Or, Ziv$$b26
000155708 7001_ $$0P:(DE-2719)9000431$$aFernández-Santiago, Rubén$$b27$$udzne
000155708 7001_ $$aBrice, Alexis$$b28
000155708 7001_ $$aLesage, Suzanne$$b29
000155708 7001_ $$aFarrer, Matthew$$b30
000155708 7001_ $$aWood, Nicholas$$b31
000155708 7001_ $$aMorris, Huw R$$b32
000155708 7001_ $$0P:(DE-HGF)0$$aConsortium, International Parkinson Disease Genomics$$b33$$eCollaboration Author
000155708 773__ $$0PERI:(DE-600)1498414-3$$a10.1016/j.neurobiolaging.2020.07.002$$gVol. 97, p. 148.e17 - 148.e24$$p148.e17 - 148.e24$$tNeurobiology of aging$$v97$$x0197-4580$$y2021
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