000162738 001__ 162738
000162738 005__ 20250415100046.0
000162738 0247_ $$2doi$$a10.1002/ana.26094
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000162738 0247_ $$2ISSN$$a1531-8249
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000162738 037__ $$aDZNE-2021-01395
000162738 041__ $$aEnglish
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000162738 1001_ $$00000-0001-7803-580X$$aLai, Dongbing$$b0
000162738 245__ $$aGenomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.
000162738 260__ $$aHoboken, NJ$$bWiley-Blackwell$$c2021
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000162738 520__ $$aThe aim of this study was to search for genes/variants that modify the effect of LRRK2 mutations in terms of penetrance and age-at-onset of Parkinson's disease.We performed the first genomewide association study of penetrance and age-at-onset of Parkinson's disease in LRRK2 mutation carriers (776 cases and 1,103 non-cases at their last evaluation). Cox proportional hazard models and linear mixed models were used to identify modifiers of penetrance and age-at-onset of LRRK2 mutations, respectively. We also investigated whether a polygenic risk score derived from a published genomewide association study of Parkinson's disease was able to explain variability in penetrance and age-at-onset in LRRK2 mutation carriers.A variant located in the intronic region of CORO1C on chromosome 12 (rs77395454; p value = 2.5E-08, beta = 1.27, SE = 0.23, risk allele: C) met genomewide significance for the penetrance model. Co-immunoprecipitation analyses of LRRK2 and CORO1C supported an interaction between these 2 proteins. A region on chromosome 3, within a previously reported linkage peak for Parkinson's disease susceptibility, showed suggestive associations in both models (penetrance top variant: p value = 1.1E-07; age-at-onset top variant: p value = 9.3E-07). A polygenic risk score derived from publicly available Parkinson's disease summary statistics was a significant predictor of penetrance, but not of age-at-onset.This study suggests that variants within or near CORO1C may modify the penetrance of LRRK2 mutations. In addition, common Parkinson's disease associated variants collectively increase the penetrance of LRRK2 mutations. ANN NEUROL 2021;90:82-94.
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000162738 650_7 $$0EC 2.7.11.1$$2NLM Chemicals$$aLeucine-Rich Repeat Serine-Threonine Protein Kinase-2
000162738 650_2 $$2MeSH$$aAged
000162738 650_2 $$2MeSH$$aFemale
000162738 650_2 $$2MeSH$$aGenetic Predisposition to Disease
000162738 650_2 $$2MeSH$$aGenome-Wide Association Study
000162738 650_2 $$2MeSH$$aGenotype
000162738 650_2 $$2MeSH$$aHumans
000162738 650_2 $$2MeSH$$aLeucine-Rich Repeat Serine-Threonine Protein Kinase-2: genetics
000162738 650_2 $$2MeSH$$aMale
000162738 650_2 $$2MeSH$$aMiddle Aged
000162738 650_2 $$2MeSH$$aMutation
000162738 650_2 $$2MeSH$$aParkinson Disease: genetics
000162738 650_2 $$2MeSH$$aPenetrance
000162738 7001_ $$aAlipanahi, Babak$$b1
000162738 7001_ $$aFontanillas, Pierre$$b2
000162738 7001_ $$aSchwantes-An, Tae-Hwi$$b3
000162738 7001_ $$aAasly, Jan$$b4
000162738 7001_ $$aAlcalay, Roy N$$b5
000162738 7001_ $$aBeecham, Gary W$$b6
000162738 7001_ $$0P:(DE-HGF)0$$aBerg, Daniela$$b7
000162738 7001_ $$aBressman, Susan$$b8
000162738 7001_ $$aBrice, Alexis$$b9
000162738 7001_ $$0P:(DE-2719)2811916$$aBrockmann, Kathrin$$b10$$udzne
000162738 7001_ $$aClark, Lorraine$$b11
000162738 7001_ $$aCookson, Mark$$b12
000162738 7001_ $$aDas, Sayantan$$b13
000162738 7001_ $$aVan Deerlin, Vivianna$$b14
000162738 7001_ $$aFollett, Jordan$$b15
000162738 7001_ $$aFarrer, Matthew J$$b16
000162738 7001_ $$aTrinh, Joanne$$b17
000162738 7001_ $$0P:(DE-2719)2320009$$aGasser, Thomas$$b18$$udzne
000162738 7001_ $$aGoldwurm, Stefano$$b19
000162738 7001_ $$aGustavsson, Emil$$b20
000162738 7001_ $$00000-0003-2102-3431$$aKlein, Christine$$b21
000162738 7001_ $$aLang, Anthony E$$b22
000162738 7001_ $$aLangston, J William$$b23
000162738 7001_ $$aLatourelle, Jeanne$$b24
000162738 7001_ $$aLynch, Timothy$$b25
000162738 7001_ $$aMarder, Karen$$b26
000162738 7001_ $$aMarras, Connie$$b27
000162738 7001_ $$aMartin, Eden R$$b28
000162738 7001_ $$aMcLean, Cory Y$$b29
000162738 7001_ $$aMejia-Santana, Helen$$b30
000162738 7001_ $$aMolho, Eric$$b31
000162738 7001_ $$aMyers, Richard H$$b32
000162738 7001_ $$aNuytemans, Karen$$b33
000162738 7001_ $$aOzelius, Laurie$$b34
000162738 7001_ $$aPayami, Haydeh$$b35
000162738 7001_ $$aRaymond, Deborah$$b36
000162738 7001_ $$aRogaeva, Ekaterina$$b37
000162738 7001_ $$aRogers, Michael P$$b38
000162738 7001_ $$00000-0003-4813-756X$$aRoss, Owen A$$b39
000162738 7001_ $$aSamii, Ali$$b40
000162738 7001_ $$aSaunders-Pullman, Rachel$$b41
000162738 7001_ $$aSchüle, Birgitt$$b42
000162738 7001_ $$0P:(DE-2719)9000366$$aSchulte, Claudia$$b43$$udzne
000162738 7001_ $$aScott, William K$$b44
000162738 7001_ $$aTanner, Caroline$$b45
000162738 7001_ $$aTolosa, Eduardo$$b46
000162738 7001_ $$aTomkins, James E$$b47
000162738 7001_ $$aVilas, Dolores$$b48
000162738 7001_ $$0P:(DE-HGF)0$$aTrojanowski, John Q$$b49
000162738 7001_ $$aTeam, 23andMe Research$$b50$$eCollaboration Author
000162738 7001_ $$aUitti, Ryan$$b51
000162738 7001_ $$aVance, Jeffery M$$b52
000162738 7001_ $$00000-0001-5968-7845$$aVisanji, Naomi P$$b53
000162738 7001_ $$aWszolek, Zbigniew K$$b54
000162738 7001_ $$00000-0002-7739-4306$$aZabetian, Cyrus P$$b55
000162738 7001_ $$00000-0002-1520-2292$$aMirelman, Anat$$b56
000162738 7001_ $$aGiladi, Nir$$b57
000162738 7001_ $$aOrr Urtreger, Avi$$b58
000162738 7001_ $$aCannon, Paul$$b59
000162738 7001_ $$aFiske, Brian$$b60
000162738 7001_ $$aForoud, Tatiana$$b61
000162738 773__ $$0PERI:(DE-600)2037912-2$$a10.1002/ana.26094$$gVol. 90, no. 1, p. 76 - 88$$n1$$p76 - 88$$tAnnals of neurology$$v90$$x1531-8249$$y2021
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