LINGO1 rs9652490 and rs11856808 polymorphisms are not associated with risk for multiple sclerosis

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• 作者：Elena García-Martín (1)
  Oswaldo Lorenzo-Betancor (2) (3)
  Carmen Martínez (4)
  Pau Pastor (2) (3) (5)
  Julián Benito-León (5) (6) (7)
  Jorge Millán-Pascual (8)
  Patricia Calleja (6)
  María Díaz-Sánchez (6)
  Diana Pisa (9)
  Laura Turpín-Fenoll (8)
  Hortensia Alonso-Navarro (10)
  Lucía Ayuso-Peralta (11)
  Dolores Torrecillas (11)
  Elena Lorenzo (2)
  José Francisco Plaza-Nieto (10)
  José A G Agúndez (4)
  Félix Javier Jiménez-Jiménez (10) (11)
  
• 关键词：Multiple sclerosis ; Genetics ; Genetic polymorphisms ; LINGO ; 1 ; Risk factors
• 刊名：BMC Neurology
• 出版年：2013
• 出版时间：December 2013
• 年：2013
• 卷：13
• 期：1
• 全文大小：450KB
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  51. The pre-publication history for this paper can be accessed here:medcentral.com/1471-2377/13/34/prepub" class="a-plus-plus">http://www.biomedcentral.com/1471-2377/13/34/prepub
  
• 作者单位：Elena García-Martín (1)
  Oswaldo Lorenzo-Betancor (2) (3)
  Carmen Martínez (4)
  Pau Pastor (2) (3) (5)
  Julián Benito-León (5) (6) (7)
  Jorge Millán-Pascual (8)
  Patricia Calleja (6)
  María Díaz-Sánchez (6)
  Diana Pisa (9)
  Laura Turpín-Fenoll (8)
  Hortensia Alonso-Navarro (10)
  Lucía Ayuso-Peralta (11)
  Dolores Torrecillas (11)
  Elena Lorenzo (2)
  José Francisco Plaza-Nieto (10)
  José A G Agúndez (4)
  Félix Javier Jiménez-Jiménez (10) (11)
  
  1. Department of Biochemistry and Molecular Biology, University of Extremadura, Cáceres, SPAIN
  2. Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, SPAIN
  3. Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, SPAIN
  4. Department of Pharmacology, University of Extremadura, Cáceres, SPAIN
  5. CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid, Spain
  6. Service of Neurology, Hospital Universitario Doce de Octubre, Madrid, SPAIN
  7. Department of Medicine, University Complutense, Madrid, SPAIN
  8. Section of Neurology, Hospital La Mancha-Centro, Alcázar de San Juan, Ciudad Real, SPAIN
  9. Centro de Biología Molecular Severo Ochoa (CSIC-UAM), Facultad de Ciencias, Universidad Autónoma, Cantoblanco, Madrid, 28049, SPAIN
  10. Section of Neurology, Hospital Universitario del Sureste, Arganda del Rey, Madrid, SPAIN
  11. Department of Medicine-Neurology, Hospital “Príncipe de Asturias- Universidad de Alcalá, Alcalá de Henares, Madrid, SPAIN
  

文摘

Background Some recent experimental data suggest a possible role of LINGO-1 in the pathogenesis of multiple sclerosis (MS). In an attempt to identify genetic biomarkers related to MS susceptibility, we genotyped two common SNPs in the LINGO1 gene which have been associated to other neurological conditions, in patients with MS and in healthy subjects. These SNPs are linked to several SNPs within the LINGO1 gene, especially in individuals of Oriental or Caucasian descent. Methods We analyzed the allelic and genotype frequency of two LINGO1 variants (rs9652490 and rs11856808) in 293 patients with MS and 318 healthy controls, using KASPar assays. Results LINGO1 rs9652490 and rs11856808 allelic and genotype frequencies did not differ significantly between MS patients and controls. The minor allele frequencies for rs9652490 were 0.171 (95% CI = 0.140-0.201) and 0.167 (95% CI = 0.138-0.196 for cases and controls respectively (p = 0.853). For rs11856808 the minor allele frequencies were 0.317 (95% CI = 0.280-0.355) and 0.310 (95% CI = 0.274-0.346) for cases and controls, respectively (p = 0.773). Allele and genotype frequencies were unrelated with the age of onset of MS, gender, and clinical course of MS. In addition, haplotype analyses did not reveal any putative risk related to haplotypes. Conclusions These results suggest that LINGO1 rs9652490 and rs11856808 polymorphisms are not related with risk for MS. This study adds to other published evidence indicating that, to date, the LINGO1 SNPs studied here could be useful risk biomarkers of developing essential tremor, but not other movement disorders.