Details

Autor(en) / Beteiligte

• Gómez-Garre, Pilar
• Huertas-Fernández, Ismael
• Cáceres-Redondo, María Teresa
• Alonso-Canovas, Araceli
• Bernal-Bernal, Inmaculada
• Blanco-Ollero, Alberto
• Bonilla-Toribio, Marta
• Burguera, Juan Andrés
• Carballo, Manuel
• Carrillo, Fatima
• José Catalán-Alonso, M.
• Escamilla-Sevilla, Francisco
• Espinosa-Rosso, Raul
• Carmen Fernández-Moreno, María
• García-Caldentey, Juan
• García-Moreno, José Manuel
• Giacometti-Silveira, Sandra
• Gutiérrez-García, Javier
• Jesús-Maestre, Silvia
• López-Valdés, Eva
• Martínez-Castrillo, Juan Carlos
• Medialdea-Natera, María Pilar
• Méndez-Lucena, Carolina
• Mínguez-Castellanos, Adolfo
• Angel Moya, Miguel
• Ochoa-Sepulveda, Juan José
• Ojea, Tomas
• Rodríguez, Nuria
• Rubio-Agusti, Ignacio
• Sillero-Sánchez, Miriam
• del Val, Javier
• Vargas-González, Laura
• Mir, Pablo

Titel

Lack of validation of variants associated with cervical dystonia risk: A GWAS replication study

Ist Teil von

• Movement disorders, 2014-12, Vol.29 (14), p.1825-1828

Ort / Verlag

United States: Blackwell Publishing Ltd

Erscheinungsjahr

2014

Quelle

MEDLINE

Beschreibungen/Notizen

• Background A recent genome‐wide association study (GWAS) has identified a putative association, not statistically confirmed, of cervical dystonia within several regions in a British population. Hence, the authors proposed dysfunction of the ion channel NALCN (for sodium leak channel, nonselective) as a plausible cause of cervical dystonia. The objective of our study was to investigate the association of five single nucleotide polymorphisms (SNPs) previously reported with high signals as putative genetic risk factors for cervical dystonia in a British GWAS, including two located in the NALCN gene region. Methods We performed a case‐control association study in a Spanish population. The SNPs selected for genotyping were two SNPS in the NALCN gene (rs61973742 and rs1338041), one SNP in the OR4X2 gene (rs67863238), one SNP in the COL4A1 region (rs619152), and one intergenic SNP (rs1249277). Genomic DNA was collected from 252 patients with cervical dystonia, with a mean age of 55.3 ± 14.1 years (mean age at onset, 43.5 ± 15.7 years), and 342 unrelated control subjects with a mean age of 56.3 ± 14.3 years. Genotyping of SNPs was performed using TaqMan assays and SimpleProbe assays. Results The SNP rs619152 had to be excluded because of assay failure. No significant differences were found in allele distribution between cases and controls for all analyzed SNPs. Therefore, we found no association with cervical dystonia for the analyzed SNPs in our Spanish population. Conclusions We did not find any evidence supporting the association of NALCN with cervical dystonia, indicating that this gene is not implicated in the pathogenesis of this disorder in our cervical dystonia population. © 2014 International Parkinson and Movement Disorder Society