The p.Asp216His TOR1A allele effect is not found in the French population.
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.
Frédéric
Mélissa Yana
MY
INSERM U827, Institut Universitaire de Recherche Clinique, 641 av du doyen Gaston Giraud, Montpellier Cedex 05, France.
Clot
Fabienne
F
Blanchard
Arnaud
A
Dhaenens
Claire-Marie
CM
Lesca
Gaëtan
G
Cif
Laura
L
Dürr
Alexandra
A
Vidailhet
Marie
M
Sablonniere
Bernard
B
Calender
Alain
A
Martinez
Maria
M
Molinari
Nicolas
N
Brice
Alexis
A
Claustres
Mireille
M
Tuffery-Giraud
Sylvie
S
Collod-Beroud
Gwenaëlle
G
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*
D018832:Molecular Chaperones; C108175:TOR1A protein, human; D001224:Aspartic Acid; D006639:Histidine