title: The p.Asp216His TOR1A allele effect is not found in the French population.
abstract: DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population.
authors.affiliation: INSERM U827, Institut Universitaire de Recherche Clinique, 641 av du doyen Gaston Giraud, Montpellier Cedex 05, France.
authors.forename: Mélissa Yana
authors.initials: MY
authors.lastname: Frédéric
authors.forename: Fabienne
authors.initials: F
authors.lastname: Clot
authors.forename: Arnaud
authors.initials: A
authors.lastname: Blanchard
authors.forename: Claire-Marie
authors.initials: CM
authors.lastname: Dhaenens
authors.forename: Gaëtan
authors.initials: G
authors.lastname: Lesca
authors.forename: Laura
authors.initials: L
authors.lastname: Cif
authors.forename: Alexandra
authors.initials: A
authors.lastname: Dürr
authors.forename: Marie
authors.initials: M
authors.lastname: Vidailhet
authors.forename: Bernard
authors.initials: B
authors.lastname: Sablonniere
authors.forename: Alain
authors.initials: A
authors.lastname: Calender
authors.forename: Maria
authors.initials: M
authors.lastname: Martinez
authors.forename: Nicolas
authors.initials: N
authors.lastname: Molinari
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Mireille
authors.initials: M
authors.lastname: Claustres
authors.forename: Sylvie
authors.initials: S
authors.lastname: Tuffery-Giraud
authors.forename: Gwenaëlle
authors.initials: G
authors.lastname: Collod-Beroud
mesh_terms: D000483:Alleles; D001224:Aspartic Acid / Q000235:genetics*; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics*; D005602:France / Q000453:epidemiology / Q000208:ethnology; D005787:Gene Frequency; D006639:Histidine / Q000235:genetics*; D006801:Humans; D018832:Molecular Chaperones / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human; D001224:Aspartic Acid; D006639:Histidine