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The p.Asp216His TOR1A allele effect is not found in the French population
Author(s) -
Frédéric Mélissa Yana,
Clot Fabienne,
Blanchard Arnaud,
Dhaenens ClaireMarie,
Lesca Gaëtan,
Cif Laura,
Dürr Alexandra,
Vidailhet Marie,
Sablonniere Bernard,
Calender Alain,
Martinez Maria,
Molinari Nicolas,
Brice Alexis,
Claustres Mireille,
TufferyGiraud Sylvie,
CollodBeroud Gwenaëlle
Publication year - 2009
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.22407
Subject(s) - penetrance , population , dystonia , genetics , mutation , allele , snp , disease , biology , medicine , single nucleotide polymorphism , genotype , neuroscience , gene , environmental health , phenotype
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. © 2008 Movement Disorder Society