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

被引：17

作者：

Roco, Angela ^{[1
]}

Javier Jimenez-Jimenez, Felix ^{[2
,3
]}

Alonso-Navarro, Hortensia ^{[2
,3
]}

Martinez, Carmen ^{[4
]}

Zurdo, Martin ^{[5
]}

Turpin-Fenoll, Laura ^{[6
]}

Millan, Jorge ^{[6
]}

Adeva-Bartolome, Teresa ^{[7
]}

Cubo, Esther ^{[8
]}

Navacerrada, Francisco ^{[2
]}

Rojo-Sebastian, Ana ^{[3
]}

Rubio, Lluisa ^{[3
]}

Calleja, Marisol ^{[2
]}

Francisco Plaza-Nieto, Jose ^{[2
]}

Pilo-de-la-Fuente, Belen ^{[2
]}

Arroyo-Solera, Margarita ^{[2
]}

Garcia-Martin, Elena ^{[9
]}

Agundez, Jose A. G. ^{[1
]}

机构：

[1] Univ Extremadura, Dept Pharmacol, Caceres, Spain

[2] Hosp Univ Sureste, Neurol Sect, Madrid, Spain

[3] Univ Alcala de Henares, Hosp Principe de Asturias, Dept Med Neurol, Madrid, Spain

[4] Univ Extremadura, Dept Pharmacol, Badajoz, Spain

[5] Hosp Virgen del Puerto, Neurol Sect, Plasencia, Caceres, Spain

[6] Hosp La Mancha Ctr, Neurol Sect, Ciudad Real, Spain

[7] Clin Recoletas, Neurol Unit, Zamora, Spain

[8] Hosp Gen Yague, Neurol Sect, Burgos, Spain

[9] Univ Extremadura, Dept Biochem & Mol Biol, Caceres, Spain

来源：

JOURNAL OF NEURAL TRANSMISSION | 2013年 / 120卷 / 03期

关键词：

Restless legs syndrome; Genetics; MAPT gene; Polymorphisms; Risk factors; PERIODIC LIMB MOVEMENTS; SUSCEPTIBILITY LOCUS; ASSOCIATION; MEIS1; LINKAGE; TAU; IDENTIFICATION; REPLICATION; EXPRESSION; HAPLOTYPE;

D O I：

10.1007/s00702-012-0897-5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：463 / 467

页数：5

共 41 条

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