MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome
Abstract Mutations in the microtubule-associated protein tau gene (MAPT) can cause frontotemporal dementia with Parkinsonism linked to the chromosome 17, and are associated with the risk for progressive supranuclear palsy, Parkinson’s disease, corticobasal degeneration, and multiple system atrophy....
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Roco, Angela [verfasserIn] Jiménez-Jiménez, Félix Javier [verfasserIn] Alonso-Navarro, Hortensia [verfasserIn] Martínez, Carmen [verfasserIn] Zurdo, Martín [verfasserIn] Turpín-Fenoll, Laura [verfasserIn] Millán, Jorge [verfasserIn] Adeva-Bartolomé, Teresa [verfasserIn] Cubo, Esther [verfasserIn] Navacerrada, Francisco [verfasserIn] Rojo-Sebastián, Ana [verfasserIn] Rubio, Lluisa [verfasserIn] Calleja, Marisol [verfasserIn] Plaza-Nieto, José Francisco [verfasserIn] Pilo-de-la-Fuente, Belén [verfasserIn] Arroyo-Solera, Margarita [verfasserIn] García-Martín, Elena [verfasserIn] Agúndez, José A. G. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2012 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Journal of neural transmission - Wien [u.a.] : Springer, 1950, 120(2012), 3 vom: 22. Sept., Seite 463-467 |
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| Übergeordnetes Werk: |
volume:120 ; year:2012 ; number:3 ; day:22 ; month:09 ; pages:463-467 |
| Links: |
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| DOI / URN: |
10.1007/s00702-012-0897-5 |
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| Katalog-ID: |
SPR007697678 |
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| 100 | 1 | |a Roco, Angela |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome |
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| 520 | |a Abstract Mutations in the microtubule-associated protein tau gene (MAPT) can cause frontotemporal dementia with Parkinsonism linked to the chromosome 17, and are associated with the risk for progressive supranuclear palsy, Parkinson’s disease, corticobasal degeneration, and multiple system atrophy. We tried to establish, whether MAPT H1 discriminating haplotype single nucleotide polymorphisms (SNP) (rs1052553) is associated with the risk for restless legs syndrome (RLS). We studied the allelic and genotype frequencies of the SNP rs1052553 in 205 patients with RLS and 324 healthy controls using TaqMan genotyping. rs1052553 genotype and allelic frequencies did not differ significantly between patients with RLS and controls, and were unrelated with the age at onset of RLS, gender, family history of RLS, and severity of RLS. The results of the present study suggest that the SNP rs1052553 is not related with the risk for RLS. | ||
| 650 | 4 | |a Restless legs syndrome |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Genetics |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a MAPT gene |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Polymorphisms |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Risk factors |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Jiménez-Jiménez, Félix Javier |e verfasserin |4 aut | |
| 700 | 1 | |a Alonso-Navarro, Hortensia |e verfasserin |4 aut | |
| 700 | 1 | |a Martínez, Carmen |e verfasserin |4 aut | |
| 700 | 1 | |a Zurdo, Martín |e verfasserin |4 aut | |
| 700 | 1 | |a Turpín-Fenoll, Laura |e verfasserin |4 aut | |
| 700 | 1 | |a Millán, Jorge |e verfasserin |4 aut | |
| 700 | 1 | |a Adeva-Bartolomé, Teresa |e verfasserin |4 aut | |
| 700 | 1 | |a Cubo, Esther |e verfasserin |4 aut | |
| 700 | 1 | |a Navacerrada, Francisco |e verfasserin |4 aut | |
| 700 | 1 | |a Rojo-Sebastián, Ana |e verfasserin |4 aut | |
| 700 | 1 | |a Rubio, Lluisa |e verfasserin |4 aut | |
| 700 | 1 | |a Calleja, Marisol |e verfasserin |4 aut | |
| 700 | 1 | |a Plaza-Nieto, José Francisco |e verfasserin |4 aut | |
| 700 | 1 | |a Pilo-de-la-Fuente, Belén |e verfasserin |4 aut | |
| 700 | 1 | |a Arroyo-Solera, Margarita |e verfasserin |4 aut | |
| 700 | 1 | |a García-Martín, Elena |e verfasserin |4 aut | |
| 700 | 1 | |a Agúndez, José A. G. |e verfasserin |4 aut | |
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10.1007/s00702-012-0897-5 doi (DE-627)SPR007697678 (SPR)s00702-012-0897-5-e DE-627 ger DE-627 rakwb eng 610 ASE 44.90 bkl Roco, Angela verfasserin aut MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Mutations in the microtubule-associated protein tau gene (MAPT) can cause frontotemporal dementia with Parkinsonism linked to the chromosome 17, and are associated with the risk for progressive supranuclear palsy, Parkinson’s disease, corticobasal degeneration, and multiple system atrophy. We tried to establish, whether MAPT H1 discriminating haplotype single nucleotide polymorphisms (SNP) (rs1052553) is associated with the risk for restless legs syndrome (RLS). We studied the allelic and genotype frequencies of the SNP rs1052553 in 205 patients with RLS and 324 healthy controls using TaqMan genotyping. rs1052553 genotype and allelic frequencies did not differ significantly between patients with RLS and controls, and were unrelated with the age at onset of RLS, gender, family history of RLS, and severity of RLS. The results of the present study suggest that the SNP rs1052553 is not related with the risk for RLS. Restless legs syndrome (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 MAPT gene (dpeaa)DE-He213 Polymorphisms (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 Jiménez-Jiménez, Félix Javier verfasserin aut Alonso-Navarro, Hortensia verfasserin aut Martínez, Carmen verfasserin aut Zurdo, Martín verfasserin aut Turpín-Fenoll, Laura verfasserin aut Millán, Jorge verfasserin aut Adeva-Bartolomé, Teresa verfasserin aut Cubo, Esther verfasserin aut Navacerrada, Francisco verfasserin aut Rojo-Sebastián, Ana verfasserin aut Rubio, Lluisa verfasserin aut Calleja, Marisol verfasserin aut Plaza-Nieto, José Francisco verfasserin aut Pilo-de-la-Fuente, Belén verfasserin aut Arroyo-Solera, Margarita verfasserin aut García-Martín, Elena verfasserin aut Agúndez, José A. G. verfasserin aut Enthalten in Journal of neural transmission Wien [u.a.] : Springer, 1950 120(2012), 3 vom: 22. Sept., Seite 463-467 (DE-627)300185901 (DE-600)1481655-6 1435-1463 nnns volume:120 year:2012 number:3 day:22 month:09 pages:463-467 https://dx.doi.org/10.1007/s00702-012-0897-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 120 2012 3 22 09 463-467 |
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10.1007/s00702-012-0897-5 doi (DE-627)SPR007697678 (SPR)s00702-012-0897-5-e DE-627 ger DE-627 rakwb eng 610 ASE 44.90 bkl Roco, Angela verfasserin aut MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Mutations in the microtubule-associated protein tau gene (MAPT) can cause frontotemporal dementia with Parkinsonism linked to the chromosome 17, and are associated with the risk for progressive supranuclear palsy, Parkinson’s disease, corticobasal degeneration, and multiple system atrophy. We tried to establish, whether MAPT H1 discriminating haplotype single nucleotide polymorphisms (SNP) (rs1052553) is associated with the risk for restless legs syndrome (RLS). We studied the allelic and genotype frequencies of the SNP rs1052553 in 205 patients with RLS and 324 healthy controls using TaqMan genotyping. rs1052553 genotype and allelic frequencies did not differ significantly between patients with RLS and controls, and were unrelated with the age at onset of RLS, gender, family history of RLS, and severity of RLS. The results of the present study suggest that the SNP rs1052553 is not related with the risk for RLS. Restless legs syndrome (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 MAPT gene (dpeaa)DE-He213 Polymorphisms (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 Jiménez-Jiménez, Félix Javier verfasserin aut Alonso-Navarro, Hortensia verfasserin aut Martínez, Carmen verfasserin aut Zurdo, Martín verfasserin aut Turpín-Fenoll, Laura verfasserin aut Millán, Jorge verfasserin aut Adeva-Bartolomé, Teresa verfasserin aut Cubo, Esther verfasserin aut Navacerrada, Francisco verfasserin aut Rojo-Sebastián, Ana verfasserin aut Rubio, Lluisa verfasserin aut Calleja, Marisol verfasserin aut Plaza-Nieto, José Francisco verfasserin aut Pilo-de-la-Fuente, Belén verfasserin aut Arroyo-Solera, Margarita verfasserin aut García-Martín, Elena verfasserin aut Agúndez, José A. G. verfasserin aut Enthalten in Journal of neural transmission Wien [u.a.] : Springer, 1950 120(2012), 3 vom: 22. Sept., Seite 463-467 (DE-627)300185901 (DE-600)1481655-6 1435-1463 nnns volume:120 year:2012 number:3 day:22 month:09 pages:463-467 https://dx.doi.org/10.1007/s00702-012-0897-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 120 2012 3 22 09 463-467 |
| allfields_unstemmed |
10.1007/s00702-012-0897-5 doi (DE-627)SPR007697678 (SPR)s00702-012-0897-5-e DE-627 ger DE-627 rakwb eng 610 ASE 44.90 bkl Roco, Angela verfasserin aut MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Mutations in the microtubule-associated protein tau gene (MAPT) can cause frontotemporal dementia with Parkinsonism linked to the chromosome 17, and are associated with the risk for progressive supranuclear palsy, Parkinson’s disease, corticobasal degeneration, and multiple system atrophy. We tried to establish, whether MAPT H1 discriminating haplotype single nucleotide polymorphisms (SNP) (rs1052553) is associated with the risk for restless legs syndrome (RLS). We studied the allelic and genotype frequencies of the SNP rs1052553 in 205 patients with RLS and 324 healthy controls using TaqMan genotyping. rs1052553 genotype and allelic frequencies did not differ significantly between patients with RLS and controls, and were unrelated with the age at onset of RLS, gender, family history of RLS, and severity of RLS. The results of the present study suggest that the SNP rs1052553 is not related with the risk for RLS. Restless legs syndrome (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 MAPT gene (dpeaa)DE-He213 Polymorphisms (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 Jiménez-Jiménez, Félix Javier verfasserin aut Alonso-Navarro, Hortensia verfasserin aut Martínez, Carmen verfasserin aut Zurdo, Martín verfasserin aut Turpín-Fenoll, Laura verfasserin aut Millán, Jorge verfasserin aut Adeva-Bartolomé, Teresa verfasserin aut Cubo, Esther verfasserin aut Navacerrada, Francisco verfasserin aut Rojo-Sebastián, Ana verfasserin aut Rubio, Lluisa verfasserin aut Calleja, Marisol verfasserin aut Plaza-Nieto, José Francisco verfasserin aut Pilo-de-la-Fuente, Belén verfasserin aut Arroyo-Solera, Margarita verfasserin aut García-Martín, Elena verfasserin aut Agúndez, José A. G. verfasserin aut Enthalten in Journal of neural transmission Wien [u.a.] : Springer, 1950 120(2012), 3 vom: 22. Sept., Seite 463-467 (DE-627)300185901 (DE-600)1481655-6 1435-1463 nnns volume:120 year:2012 number:3 day:22 month:09 pages:463-467 https://dx.doi.org/10.1007/s00702-012-0897-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 120 2012 3 22 09 463-467 |
| allfieldsGer |
10.1007/s00702-012-0897-5 doi (DE-627)SPR007697678 (SPR)s00702-012-0897-5-e DE-627 ger DE-627 rakwb eng 610 ASE 44.90 bkl Roco, Angela verfasserin aut MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Mutations in the microtubule-associated protein tau gene (MAPT) can cause frontotemporal dementia with Parkinsonism linked to the chromosome 17, and are associated with the risk for progressive supranuclear palsy, Parkinson’s disease, corticobasal degeneration, and multiple system atrophy. We tried to establish, whether MAPT H1 discriminating haplotype single nucleotide polymorphisms (SNP) (rs1052553) is associated with the risk for restless legs syndrome (RLS). We studied the allelic and genotype frequencies of the SNP rs1052553 in 205 patients with RLS and 324 healthy controls using TaqMan genotyping. rs1052553 genotype and allelic frequencies did not differ significantly between patients with RLS and controls, and were unrelated with the age at onset of RLS, gender, family history of RLS, and severity of RLS. The results of the present study suggest that the SNP rs1052553 is not related with the risk for RLS. Restless legs syndrome (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 MAPT gene (dpeaa)DE-He213 Polymorphisms (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 Jiménez-Jiménez, Félix Javier verfasserin aut Alonso-Navarro, Hortensia verfasserin aut Martínez, Carmen verfasserin aut Zurdo, Martín verfasserin aut Turpín-Fenoll, Laura verfasserin aut Millán, Jorge verfasserin aut Adeva-Bartolomé, Teresa verfasserin aut Cubo, Esther verfasserin aut Navacerrada, Francisco verfasserin aut Rojo-Sebastián, Ana verfasserin aut Rubio, Lluisa verfasserin aut Calleja, Marisol verfasserin aut Plaza-Nieto, José Francisco verfasserin aut Pilo-de-la-Fuente, Belén verfasserin aut Arroyo-Solera, Margarita verfasserin aut García-Martín, Elena verfasserin aut Agúndez, José A. G. verfasserin aut Enthalten in Journal of neural transmission Wien [u.a.] : Springer, 1950 120(2012), 3 vom: 22. Sept., Seite 463-467 (DE-627)300185901 (DE-600)1481655-6 1435-1463 nnns volume:120 year:2012 number:3 day:22 month:09 pages:463-467 https://dx.doi.org/10.1007/s00702-012-0897-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 120 2012 3 22 09 463-467 |
| allfieldsSound |
10.1007/s00702-012-0897-5 doi (DE-627)SPR007697678 (SPR)s00702-012-0897-5-e DE-627 ger DE-627 rakwb eng 610 ASE 44.90 bkl Roco, Angela verfasserin aut MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Mutations in the microtubule-associated protein tau gene (MAPT) can cause frontotemporal dementia with Parkinsonism linked to the chromosome 17, and are associated with the risk for progressive supranuclear palsy, Parkinson’s disease, corticobasal degeneration, and multiple system atrophy. We tried to establish, whether MAPT H1 discriminating haplotype single nucleotide polymorphisms (SNP) (rs1052553) is associated with the risk for restless legs syndrome (RLS). We studied the allelic and genotype frequencies of the SNP rs1052553 in 205 patients with RLS and 324 healthy controls using TaqMan genotyping. rs1052553 genotype and allelic frequencies did not differ significantly between patients with RLS and controls, and were unrelated with the age at onset of RLS, gender, family history of RLS, and severity of RLS. The results of the present study suggest that the SNP rs1052553 is not related with the risk for RLS. Restless legs syndrome (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 MAPT gene (dpeaa)DE-He213 Polymorphisms (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 Jiménez-Jiménez, Félix Javier verfasserin aut Alonso-Navarro, Hortensia verfasserin aut Martínez, Carmen verfasserin aut Zurdo, Martín verfasserin aut Turpín-Fenoll, Laura verfasserin aut Millán, Jorge verfasserin aut Adeva-Bartolomé, Teresa verfasserin aut Cubo, Esther verfasserin aut Navacerrada, Francisco verfasserin aut Rojo-Sebastián, Ana verfasserin aut Rubio, Lluisa verfasserin aut Calleja, Marisol verfasserin aut Plaza-Nieto, José Francisco verfasserin aut Pilo-de-la-Fuente, Belén verfasserin aut Arroyo-Solera, Margarita verfasserin aut García-Martín, Elena verfasserin aut Agúndez, José A. G. verfasserin aut Enthalten in Journal of neural transmission Wien [u.a.] : Springer, 1950 120(2012), 3 vom: 22. Sept., Seite 463-467 (DE-627)300185901 (DE-600)1481655-6 1435-1463 nnns volume:120 year:2012 number:3 day:22 month:09 pages:463-467 https://dx.doi.org/10.1007/s00702-012-0897-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 120 2012 3 22 09 463-467 |
| language |
English |
| source |
Enthalten in Journal of neural transmission 120(2012), 3 vom: 22. Sept., Seite 463-467 volume:120 year:2012 number:3 day:22 month:09 pages:463-467 |
| sourceStr |
Enthalten in Journal of neural transmission 120(2012), 3 vom: 22. Sept., Seite 463-467 volume:120 year:2012 number:3 day:22 month:09 pages:463-467 |
| format_phy_str_mv |
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| institution |
findex.gbv.de |
| topic_facet |
Restless legs syndrome Genetics MAPT gene Polymorphisms Risk factors |
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| container_title |
Journal of neural transmission |
| authorswithroles_txt_mv |
Roco, Angela @@aut@@ Jiménez-Jiménez, Félix Javier @@aut@@ Alonso-Navarro, Hortensia @@aut@@ Martínez, Carmen @@aut@@ Zurdo, Martín @@aut@@ Turpín-Fenoll, Laura @@aut@@ Millán, Jorge @@aut@@ Adeva-Bartolomé, Teresa @@aut@@ Cubo, Esther @@aut@@ Navacerrada, Francisco @@aut@@ Rojo-Sebastián, Ana @@aut@@ Rubio, Lluisa @@aut@@ Calleja, Marisol @@aut@@ Plaza-Nieto, José Francisco @@aut@@ Pilo-de-la-Fuente, Belén @@aut@@ Arroyo-Solera, Margarita @@aut@@ García-Martín, Elena @@aut@@ Agúndez, José A. G. @@aut@@ |
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2012-09-22T00:00:00Z |
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300185901 |
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3610 |
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SPR007697678 |
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Roco, Angela |
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Roco, Angela ddc 610 bkl 44.90 misc Restless legs syndrome misc Genetics misc MAPT gene misc Polymorphisms misc Risk factors MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome |
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610 ASE 44.90 bkl MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome Restless legs syndrome (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 MAPT gene (dpeaa)DE-He213 Polymorphisms (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 |
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ddc 610 bkl 44.90 misc Restless legs syndrome misc Genetics misc MAPT gene misc Polymorphisms misc Risk factors |
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ddc 610 bkl 44.90 misc Restless legs syndrome misc Genetics misc MAPT gene misc Polymorphisms misc Risk factors |
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MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome |
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MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome |
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Journal of neural transmission |
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Roco, Angela Jiménez-Jiménez, Félix Javier Alonso-Navarro, Hortensia Martínez, Carmen Zurdo, Martín Turpín-Fenoll, Laura Millán, Jorge Adeva-Bartolomé, Teresa Cubo, Esther Navacerrada, Francisco Rojo-Sebastián, Ana Rubio, Lluisa Calleja, Marisol Plaza-Nieto, José Francisco Pilo-de-la-Fuente, Belén Arroyo-Solera, Margarita García-Martín, Elena Agúndez, José A. G. |
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mapt1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome |
| title_auth |
MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome |
| abstract |
Abstract Mutations in the microtubule-associated protein tau gene (MAPT) can cause frontotemporal dementia with Parkinsonism linked to the chromosome 17, and are associated with the risk for progressive supranuclear palsy, Parkinson’s disease, corticobasal degeneration, and multiple system atrophy. We tried to establish, whether MAPT H1 discriminating haplotype single nucleotide polymorphisms (SNP) (rs1052553) is associated with the risk for restless legs syndrome (RLS). We studied the allelic and genotype frequencies of the SNP rs1052553 in 205 patients with RLS and 324 healthy controls using TaqMan genotyping. rs1052553 genotype and allelic frequencies did not differ significantly between patients with RLS and controls, and were unrelated with the age at onset of RLS, gender, family history of RLS, and severity of RLS. The results of the present study suggest that the SNP rs1052553 is not related with the risk for RLS. |
| abstractGer |
Abstract Mutations in the microtubule-associated protein tau gene (MAPT) can cause frontotemporal dementia with Parkinsonism linked to the chromosome 17, and are associated with the risk for progressive supranuclear palsy, Parkinson’s disease, corticobasal degeneration, and multiple system atrophy. We tried to establish, whether MAPT H1 discriminating haplotype single nucleotide polymorphisms (SNP) (rs1052553) is associated with the risk for restless legs syndrome (RLS). We studied the allelic and genotype frequencies of the SNP rs1052553 in 205 patients with RLS and 324 healthy controls using TaqMan genotyping. rs1052553 genotype and allelic frequencies did not differ significantly between patients with RLS and controls, and were unrelated with the age at onset of RLS, gender, family history of RLS, and severity of RLS. The results of the present study suggest that the SNP rs1052553 is not related with the risk for RLS. |
| abstract_unstemmed |
Abstract Mutations in the microtubule-associated protein tau gene (MAPT) can cause frontotemporal dementia with Parkinsonism linked to the chromosome 17, and are associated with the risk for progressive supranuclear palsy, Parkinson’s disease, corticobasal degeneration, and multiple system atrophy. We tried to establish, whether MAPT H1 discriminating haplotype single nucleotide polymorphisms (SNP) (rs1052553) is associated with the risk for restless legs syndrome (RLS). We studied the allelic and genotype frequencies of the SNP rs1052553 in 205 patients with RLS and 324 healthy controls using TaqMan genotyping. rs1052553 genotype and allelic frequencies did not differ significantly between patients with RLS and controls, and were unrelated with the age at onset of RLS, gender, family history of RLS, and severity of RLS. The results of the present study suggest that the SNP rs1052553 is not related with the risk for RLS. |
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MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome |
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Jiménez-Jiménez, Félix Javier Alonso-Navarro, Hortensia Martínez, Carmen Zurdo, Martín Turpín-Fenoll, Laura Millán, Jorge Adeva-Bartolomé, Teresa Cubo, Esther Navacerrada, Francisco Rojo-Sebastián, Ana Rubio, Lluisa Calleja, Marisol Plaza-Nieto, José Francisco Pilo-de-la-Fuente, Belén Arroyo-Solera, Margarita García-Martín, Elena Agúndez, José A. G. |
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We tried to establish, whether MAPT H1 discriminating haplotype single nucleotide polymorphisms (SNP) (rs1052553) is associated with the risk for restless legs syndrome (RLS). We studied the allelic and genotype frequencies of the SNP rs1052553 in 205 patients with RLS and 324 healthy controls using TaqMan genotyping. rs1052553 genotype and allelic frequencies did not differ significantly between patients with RLS and controls, and were unrelated with the age at onset of RLS, gender, family history of RLS, and severity of RLS. 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