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.
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.
Authors: Codrin Lungu; Laurie Ozelius; David Standaert; Mark Hallett; Beth-Anne Sieber; Christine Swanson-Fisher; Brian D Berman; Nicole Calakos; Jennifer C Moore; Joel S Perlmutter; Sarah E Pirio Richardson; Rachel Saunders-Pullman; Laura Scheinfeldt; Nutan Sharma; Roy Sillitoe; Kristina Simonyan; Philip A Starr; Anna Taylor; Jerrold Vitek Journal: Neurology Date: 2020-02-25 Impact factor: 9.910
Authors: Gregory Garbès Putzel; Giovanni Battistella; Anna F Rumbach; Laurie J Ozelius; Mert R Sabuncu; Kristina Simonyan Journal: Cereb Cortex Date: 2018-01-01 Impact factor: 5.357
Authors: Yan V Sun; Chengchen Li; Qin Hui; Yunfeng Huang; Richard Barbano; Ramon Rodriguez; Irene A Malaty; Stephen Reich; Kimberly Bambarger; Katie Holmes; Joseph Jankovic; Neepa J Patel; Emmanuel Roze; Marie Vidailhet; Brian D Berman; Mark S LeDoux; Alberto J Espay; Pinky Agarwal; Sarah Pirio-Richardson; Samuel A Frank; William G Ondo; Rachel Saunders-Pullman; Sylvain Chouinard; Stover Natividad; Alfredo Berardelli; Alexander Y Pantelyat; Allison Brashear; Susan H Fox; Meike Kasten; Ulrike M Krämer; Miriam Neis; Tobias Bäumer; Sebastian Loens; Max Borsche; Simone Zittel; Antonia Maurer; Mathias Gelderblom; Jens Volkmann; Thorsten Odorfer; Andrea A Kühn; Friederike Borngräber; Inke R König; Carlos Cruchaga; Adam C Cotton; Gamze Kilic-Berkmen; Alan Freeman; Stewart A Factor; Laura Scorr; J Douglas Bremner; Viola Vaccarino; Arshed A Quyyumi; Christine Klein; Joel S Perlmutter; Katja Lohmann; Hyder A Jinnah Journal: Mov Disord Date: 2021-07-28 Impact factor: 10.338