Age at onset in LRRK2-associated PD is modified by SNCA variants

Journal of Molecular Neuroscience

Volumn 48, Issue 1, 2012, Pages 245-247

  Botta Orfila, Teresa ^a,b   Ezquerra, Mario ^a,b   Pastor, Pau ^b,c,d   Fernández Santiago, Rubén ^a,b   Pont Sunyer, Claustre ^a,b   Compta, Yaroslau ^a,b   Lorenzo Betancor, Oswaldo ^b,c,d   Samaranch, Lluis ^b,d   Martí, Maria José ^a,b   Valldeoriola, Francesc ^a,b   Calopa, Matilde ^e   Fernández, Manel ^a   Aguilar, Miquel ^f   De Fabregas, Oriol ^g   Hernández Vara, Jorge ^g   Tolosa, Eduard ^a,b  

^a INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^c UNIVERSITY OF NAVARRA   (Spain)

^d UNIVERSITY OF NAVARRA   (Spain)

^e HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^f HOSPITAL CLÍNIC   (Spain)

^g HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

Age at onset; LRRK2; Parkinson; Rs356219; SNCA

Indexed keywords

ADULT; ALPHA SYNUCLEIN GENE; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; LEUCINE RICH REPEAT KINASE 2 GENE; MALE; ONSET AGE; PARKINSON DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGE OF ONSET; AGED; ALPHA-SYNUCLEIN; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; GENETIC VARIATION; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES;

EID: 84865107641     PISSN: 08958696     EISSN: 15591166     Source Type: Journal    
DOI: 10.1007/s12031-012-9820-7     Document Type: Article

References (14)

1. Botta-Orfila T, Ezquerra M, Rios J, Fernandez-Santiago R, Cervantes S, Samaranch L, Pastor P, Marti MJ, Munoz E, Valldeoriola F, Aguilar M, Calopa M, Hernandez-Vara J, Tolosa E (2011) Lack of interaction of SNCA and MAPT genotypes in Parkinson's disease. Eur J Neurol 18:e32.2011
2. Cardo LF, Coto E, de Mena L, Ribacoba R, Lorenzo-Betancor O, Pastor P, Samaranch L, Mata IF, Diaz M, Moris G, Menendez M, Corao AI, Alvarez V (2011) A search for SNCA 3' UTR variants identified SNP rs356165 as a determinant of disease risk and onset age in Parkinson's disease. J Mol Neurosci
3. Fuchs J, Tichopad A, Golub Y, Munz M, Schweitzer KJ, Wolf B, Berg D, Mueller JC, Gasser T (2008) Genetic variability in the SNCA gene influences alpha-synuclein levels in the blood and brain. FASEB J 22:1327-1334 (Pubitemid 351656774)
4. Gaig C, Ezquerra M, Marti MJ, Munoz E, Valldeoriola F, Tolosa E (2006) LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance. Arch Neurol 63:377-382
5. Healy DG, Falchi M, O'Sullivan SS, Bonifati V, Durr A, Bressman S, Brice A, Aasly J, Zabetian CP, Goldwurm S, Ferreira JJ, Tolosa E, Kay DM, Klein C, Williams DR, Marras C, Lang AE, Wszolek ZK, Berciano J, Schapira AH, Lynch T, Bhatia KP, Gasser T, Lees AJ, Wood NW (2008) Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 7:583-590
6. Maraganore DM, de Andrade M, Elbaz A, Farrer MJ, Ioannidis JP, Kruger R, Rocca WA, Schneider NK, Lesnick TG, Lincoln SJ, Hulihan MM, Aasly JO, Ashizawa T, Chartier-Harlin MC, Checkoway H, Ferrarese C, Hadjigeorgiou G, Hattori N, Kawakami H, Lambert JC, Lynch T, Mellick GD, Papapetropoulos S, Parsian A, Quattrone A, Riess O, Tan EK, Van Broeckhoven C (2006) Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA 296:661-670 (Pubitemid 44200637)
7. Mata IF, Shi M, Agarwal P, Chung KA, Edwards KL, Factor SA, Galasko DR, Ginghina C, Griffith A, Higgins DS, Kay DM, Kim H, Leverenz JB, Quinn JF, Roberts JW, Samii A, Snapinn KW, Tsuang DW, Yearout D, Zhang J, Payami H, Zabetian CP (2010) SNCA variant associated with Parkinson disease and plasma alpha-synuclein level. Arch Neurol 67:1350-1356
8. Mata IF, Yearout D, Alvarez V, Coto E, de Mena L, Ribacoba R, Lorenzo-Betancor O, Samaranch L, Pastor P, Cervantes S, Infante J, Garcia-Gorostiaga I, Sierra M, Combarros O, Snapinn KW, Edwards KL, Zabetian CP (2011) Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease. Mov Disord 26:819-823
9. Mueller JC, Fuchs J, Hofer A, Zimprich A, Lichtner P, Illig T, Berg D, Wullner U, Meitinger T, Gasser T (2005) Multiple regions of alpha-synuclein are associated with Parkinson's disease. Ann Neurol 57:535-541 (Pubitemid 40471163)
10. Paisan-Ruiz C, Jain S, Evans EW, Gilks WP, Simon J, van der Brug M, Lopez de Munain A, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Carrera IM, Pena AS, de Silva R, Lees A, Marti-Masso JF, Perez-Tur J, Wood NW, Singleton AB (2004) Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44:595-600 (Pubitemid 39531224)
11. Satake W, Nakabayashi Y, Mizuta I, Hirota Y, Ito C, Kubo M, Kawaguchi T, Tsunoda T, Watanabe M, Takeda A, Tomiyama H, Nakashima K, Hasegawa K, Obata F, Yoshikawa T, Kawakami H, Sakoda S, Yamamoto M, Hattori N, Murata M, Nakamura Y, Toda T (2009) Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet 41:1303-1307
12. Simon-Sanchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Kruger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 41:1308-1312
13. Sole X, Guino E, Valls J, Iniesta R, Moreno V (2006) SNPStats: a web tool for the analysis of association studies. Bioinformatics 22:1928-1929 (Pubitemid 44283043)
14. Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Muller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T (2004) Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44:601-607 (Pubitemid 39531225)