TY - JOUR
T1 - Is TOR1A a risk factor in adult-onset primary torsion dystonia?
AU - Groen, Justus L.
AU - Ritz, Katja
AU - Tanck, Michael W.
AU - van de Warrenburg, Bart P.
AU - van Hilten, Jacobus J.
AU - Aramideh, Majid
AU - Baas, Frank
AU - Tijssen, Marina A. J.
PY - 2013
Y1 - 2013
N2 - Studies of genetic association between TOR1A and adult-onset primary torsion dystonia have contradictory results. The authors genotyped TOR1A single nucleotide polymorphisms rs1801968, rs2296793, rs1182 and rs3842225 in a cohort of clinically well characterized cervical dystonia patients (n=367) and constructed haplotypes. The authors systematically reviewed the published case-control TOR1A association studies in adult-onset primary torsion dystonia. In this Dutch cervical dystonia cohort, no significant association was found with TOR1A variants. In the meta-analysis (eight studies, 1332 adult-onset primary dystonia patients) no variant reached overall significance. However, in a selection of familial cases the functional variant p.Asp216His (rs1801968) was associated with increased dystonia risk (odds ratio 1.43; 95%CI 1.01-2.02). Meta-analysis does not show association with common variants in TOR1A in adult-onset primary dystonia, except for the functional variant rs1801968 in familial focal dystonia cases
AB - Studies of genetic association between TOR1A and adult-onset primary torsion dystonia have contradictory results. The authors genotyped TOR1A single nucleotide polymorphisms rs1801968, rs2296793, rs1182 and rs3842225 in a cohort of clinically well characterized cervical dystonia patients (n=367) and constructed haplotypes. The authors systematically reviewed the published case-control TOR1A association studies in adult-onset primary torsion dystonia. In this Dutch cervical dystonia cohort, no significant association was found with TOR1A variants. In the meta-analysis (eight studies, 1332 adult-onset primary dystonia patients) no variant reached overall significance. However, in a selection of familial cases the functional variant p.Asp216His (rs1801968) was associated with increased dystonia risk (odds ratio 1.43; 95%CI 1.01-2.02). Meta-analysis does not show association with common variants in TOR1A in adult-onset primary dystonia, except for the functional variant rs1801968 in familial focal dystonia cases
U2 - https://doi.org/10.1002/mds.25381
DO - https://doi.org/10.1002/mds.25381
M3 - Article
C2 - 23460578
SN - 0885-3185
VL - 28
SP - 827
EP - 831
JO - Movement disorders
JF - Movement disorders
IS - 6
ER -