MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome

Journal of Neural Transmission

Volumn 120, Issue 3, 2013, Pages 463-467

  Roco, Angela ^a   Jiménez Jiménez, Félix Javier ^b,c,h   Alonso Navarro, Hortensia ^b,c   Martínez, Carmen ^a   Zurdo, Martín ^d   Turpín Fenoll, Laura ^e   Millán, Jorge ^e   Adeva Bartolomé, Teresa ^f   Cubo, Esther ^g   Navacerrada, Francisco ^b   Rojo Sebastián, Ana ^c   Rubio, Lluisa ^c   Calleja, Marisol ^b   Plaza Nieto, José Francisco ^b   Pilo De La Fuente, Belén ^b   Arroyo Solera, Margarita ^b   García Martín, Elena ^a   Agúndez, José A G ^a  

^a UNIVERSITY OF EXTREMADURA   (Spain)

^b Hospital Universitario del Sureste de Madrid   (Spain)

^c UNIVERSITY OF ALCALÁ   (Spain)

^d HOSPITAL VIRGEN DEL PUERTO   (Spain)

^e HOSPITAL GENERAL LA MANCHA CENTRO   (Spain)

^f Unit of Neurology   (Spain)

^g HOSPITAL UNIVERSITARIO DE BURGOS   (Spain)

^h not available   (Spain)

Author keywords

Genetics; MAPT gene; Polymorphisms; Restless legs syndrome; Risk factors

Indexed keywords

TAU PROTEIN;

ADULT; ARTICLE; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RESTLESS LEGS SYNDROME; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84875693098     PISSN: 03009564     EISSN: 14351463     Source Type: Journal    
DOI: 10.1007/s00702-012-0897-5     Document Type: Article

References (40)

1. Allen RP, Picchietti D, Hening WA, Trenkwalder C, Walters AS, Montplaisir J (2003) Restless legs syndrome: diagnostic criteria, special considerations, and epidemiology: a report from the restless legs syndrome diagnosis and epidemiology work shop at the National Institute of Health. Sleep Med 4:101-119 (Pubitemid 36527231)
2. Anonymous (No authors listed) (2010) Drug-induced restless legs syndrome. Prescrire Int 19:164-165
3. Bonati MT, Ferini-Strambi L, Aridon P, Oldani A, Zucconi M, Casari G (2003) Autosomal dominant restless legs syndrome maps on chromosome 14q. Brain 126:1485-1492 (Pubitemid 36644391)
4. Chen S, Ondo WG, Rao S, Li L, Chen Q, Wang Q (2004) Genomewide linkage scan identifies a novel susceptibility locus for RLS on chromosome 9p. Am J Hum Genet 74:876-889 (Pubitemid 38568962)
5. Desautels A, Turecki G, Montplaisir J, Sequeira A, Verner A, Rouleau G (2001) Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q. Am J Hum Genet 69:1266-1270 (Pubitemid 33124208)
6. Desautels A, Turecki G, Montplaisir J, Xiong L, Walters AS, Ehrenberg BL, Brisebois K, Desautels AK, Gingras Y, Johnson WG, Lugaresi E, Coccagna G, Picchietti DL, Lazzarini A, Rouleau GA (2005) Restless legs syndrome: confirmation of linkage to chromosome 12q, genetic heterogeneity, and evidence of complexity. Arch Neurol 62:591-596 (Pubitemid 40489891)
7. Elbaz A, Ross OA, Ioannidis JP, Soto-Ortolaza AI, Moisan F, Aasly J, Annesi G, Bozi M, Brighina L, Chartier-Harlin MC, Destée A, Ferrarese C, Ferraris A, Gibson JM, Gispert S, Hadjigeorgiou GM, Jasinska-Myga B, Klein C, Krüger R, Lambert JC, Lohmann K, van de Loo S, Loriot MA, Lynch T, Mellick GD, Mutez E, Nilsson C, Opala G, Puschmann A, Quattrone A, Sharma M, Silburn PA, Stefanis L, Uitti RJ (2011) Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. Ann Neurol 69:778-792
8. Ezquerra M, Pastor P, Gaig C, Vidal-Taboada JM, Cruchaga C, Muñoz E, Martí MJ, Valldeoriola F, Aguilar M, Calopa M, Hernandez-Vara J, Tolosa E (2011) Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy. Neurobiol Aging 32:547.e11-6
9. Garcia-Borreguero D, Odin P, Serrano C (2003) Restless legs syndrome and PD: a review of the evidence for a possible association. Neurology 61(6 Suppl 3):S49-S55
10. García-Martín E, Martínez C, Alonso-Navarro H, Benito-León J, Lorenzo-Betancor O, Pastor P, López-Alburquerque T, Samaranch L, Lorenzo E, Agúndez JAG, Jiménez-Jiménez FJ (2012) H1-MAPT and the risk for familial essential tremor. PLoS ONE 7:e41581
11. Hutton M, London CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P (1998) Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393:702-705 (Pubitemid 28289662)
12. International Parkinson Disease Genomics Consortium, Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin UM, Saad M, Simón-Sánchez J, Schulte C, Lesage S, Sveinbjörnsdóttir S, Stefánsson K, Martinez M, Hardy J, Heutink P, Brice A, Gasser T, Singleton AB, Wood NW (2011) Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet 377:641-649
13. Kemlink D, Polo O, Frauscher B, Gschliesser V, Högl B, Poewe W, Vodicka P, Vavrova J, Sonka K, Nevsimalova S, Schormair B, Lichtner P, Silander K, Peltonen L, Gieger C, Wichmann HE, Zimprich A, Roeske D, Müller-Myhsok B, Meitinger T, Winkelmann J (2009) Replication of restless legs syndrome loci in three European populations. J Med Genet 46:315-318
14. Lazzarini A, Walters AS, Hickey K, Coccagna G, Lugaresi E, Ehrenberg BL, Picchietti DL, Brin MF, Stenroos ES, Verrico T, Johnson WG (1999) Studies of penetrance and anticipation in five autosomal-dominant restless legs syndrome pedigrees. Mov Disord 14:111-116 (Pubitemid 29224684)
15. Levchenko A, Provost S, Montplaisir JY, Xiong L, St-Onge J, Thibodeau P, Riviere JB, Desautels A, Turecki G, Dube MP, Rouleau GA (2006) A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13. Neurology 67:900-901 (Pubitemid 44394216)
16. Levchenko A, Montplaisir JY, Asselin G, Provost S, Girard SL, Xiong L, Lemyre E, St-Onge J, Thibodeau P, Desautels A, Turecki G, Gaspar C, Dubé MP, Rouleau GA (2009) Autosomal-dominant locus for restless legs syndrome in French-Canadians on chromosome 16p12.1. Mov Disord 24:40-50
17. 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
18. Montplaisir J, Boucher S, Poirier G, Lavigne G, Lapierre O, Lesperance P (1997) Clinical, polysomnographic, and genetic characteristics of restless legs syndrome: a study of 133 patients diagnosed with new standard criteria. Mov Disord 12:61-65 (Pubitemid 27032881)
19. Ondo W, Jankovic J (1996) Restless legs syndrome: clinicoetiologic correlates. Neurology 47:1435-1441 (Pubitemid 26422532)
20. Ondo WG, Vuong KD, Wang Q (2000) Restless legs syndrome in monozygotic twins: clinical correlates. Neurology 55:1404-1406
21. Pastor P, Ezquerra M, Muñoz E, Martí MJ, Blesa R, Tolosa E, Oliva R (2000) Significant association between the tau gene A0/A0 genotype and Parkinson's disease. Ann Neurol 47:242-245 (Pubitemid 30078573)
22. Pichler I, Marroni F, Volpato CB, Gusella JF, Klein C, Casari G, De Grandi A, Pramstaller PP (2006) Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a south Tyrolean population isolate. Am J Hum Genet 79:716-723 (Pubitemid 44452749)
23. Rademakers R, Melquier S, Cruts M, Theuns J, Del-Favero J, Poorkaj P, Baker M, Sleegers K, Crook R, De Pooter T, Bel Kacem S, Adamson J, Van den Bossche D, Van den Broeck M, Gass J, Corsmit E, De Rijk P, Thomas N, Engelborghs S, Heckman M, Litvan I, Crook J, De Deyn PP, Dickson D, Schellenberg GD, Van Broeckhoven C, Hutton ML (2005) High-density SNP haplotyping suggests altered regulations of tau gene expression in progressive supranuclear palsy. Hum Mol Genet 2005:3281-3292 (Pubitemid 41631302)
24. Schormair B, Kemlink D, Roeske D, Eckstein G, Xiong L, Lichtner P, Ripke S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Högl B, Frauscher B, Gschliesser V, Poewe W, Peglau I, Vodicka P, Vávrová J, Sonka K, Nevsimalova S, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T, Winkelmann J (2008) PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome. Nat Genet 40:946-948
25. Schulte EC, Knauf F, Kemlink D, Schormair B, Lichtner P, Gieger C, Meitinger T, Winkelmann J (2011) Variant screening of the coding regions of MEIS1 in patients with restless legs syndrome. Neurology 76:1106-1108
26. Stefansson H, Rye DB, Hicks A, Petursson H, Ingason A, Thorgeirsson TE, Palsson S, Sigmundsson T, Sigurdsson AP, Eiriksdottir I, Soebech E, Bliwise D, Beck JM, Rosen A, Waddy S, Trotti LM, Iranzo A, Thambisetty M, Hardarson GA, Kristjansson K, Gudmundsson LJ, Thorsteinsdottir U, Kong A, Gulcher JR, Gudbjartsson D, Stefansson K (2007) A genetic risk factor for periodic limb movements in sleep. N Engl J Med 357:639-647 (Pubitemid 47267233)
27. Vilariño-Güell C, Farrer MJ, Lin S (2008a) A genetic risk factor for periodic limb movements in sleep. N Eng J Med 358:425-427
28. Vilariño-Güell C, Soto AI, Young JE, Lin SC, Uitti RJ, Wszolek ZK, Farrer MJ (2008b) Susceptibility genes for restless legs syndrome are not associated with Parkinson's disease. Neurology 71:222-223
29. Vilariño-Güell C, Chai H, Keeling BH, Young JE, Rajput A, Lynch T, Aasly JO, Uitti RJ, Wszolek ZK, Farrer MJ, Lin SC (2009) MEIS1 p.R272H in familial restless legs syndrome. Neurology 73:243-245
30. Vilariño-Güell C, Soto-Ortolaza AI, Rajput A, Mash DC, Papapetropoulos S, Pahwa R, Lyons KE, Uitti RJ, Wszolek ZK, Dickson DW, Farrer MJ, Ross OA (2011) MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy. Neurology 76:670-672
31. Walters AS, Picchietti D, Hening W, Lazzarini A (1990) Variable expressivity in familial restless legs syndrome. Arch Neurol 47:1219-1220 (Pubitemid 20381003)
32. Walters AS, Hickey K, Maltzman J, Verrico T, Joseph D, Hening W, Wilson V, Chokroverty S (1996) A questionnaire study of 138 patients with restless legs syndrome: the 'Night-Walkers' survey. Neurology 46:92-95 (Pubitemid 26156108)
33. Walters AS, LeBrocq C, Dhar A, Hening W, Rosen R, Allen RP, Trenkwalder C, International Restless Legs Syndrome Study Group (2003) Validation of the International Restless Legs Syndrome Study Group rating scale for restless legs syndrome. Sleep Med 4:121-132 (Pubitemid 36527232)
34. Wider C, Vilariño-Güell C, Heckman MG, Jasinska-Myga B, Ortolaza-Soto AI, Diehl NN, Crook JE, Cobb SA, Bacon JA, Aasly JO, Gibson JM, Lynch T, Uitti RJ, Wszolek ZK, Farrer MJ, Ross OA (2011) SNCA, MAPT, and GSK3B in Parkinson disease: a gene-gene interaction study. Eur J Neurol 18:876-881
35. Winkelmann J, Muller-Myhsok B, Wittchen HU, Hock B, Prager M, Pfister H, Strohle A, Eisensehr I, Dichgans M, Gasser T, Trenkwalder C (2002) Complex segregation analysis of restless legs syndrome provides evidence for an autosomal dominant mode of inheritance in early age at onset families. Ann Neurol 52:297-302 (Pubitemid 35001495)
36. Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadeh S, Fulda S, Pütz B, Eckstein G, Hauk S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Peglau I, Eisensehr I, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T (2007) Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet 39:1000-1006 (Pubitemid 47185185)
37. Xiong L, Catoire H, Dion P, Gaspar C, Lafrenière RG, Girard SL, Levchenko A, Rivière JB, Fiori L, St-Onge J, Bachand I, Thibodeau P, Allen R, Earley C, Turecki G, Montplaisir J, Rouleau GA (2009) MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels. Hum Mol Genet 18:1065-1074
38. Xiong L, Montplaisir J, Desautels A, Barhdadi A, Turecki G, Levchenko A, Thibodeau P, Dubé MP, Gaspar C, Rouleau GA (2010) Family study of restless legs syndrome in Quebec, Canada: clinical characterization of 671 familial cases. Arch Neurol 67:617-622
39. Yang Q, Li L, Chen Q, Foldvary-Schaefer N, Ondo WG, Wang QK (2011a) Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population. Sleep Med 12:800-804
40. Yang Q, Li L, Yang R, Shen GQ, Chen Q, Foldvary-Schaefer N, Ondo WG, Wang QK (2011b) Family-based and population-based association studies validate PTPRD as a risk factor for restless legs syndrome. Mov Disord 26:516-519