Analysis of D216H Polymorphism in Argentinean Patients With Primary Dystonia

Abstract

The D216H polymorphism (rs1801968) in TOR1A has been suggested as a risk factor for developing primary dystonia in German subjects not carrying the deletion c.904-906delGAG (∆GAG). However, this association could not be confirmed in other populations with different ethnic backgrounds. The purpose of this study is to evaluate the D216H polymorphism in an Argentinean cohort of 40 patients with primary dystonia and 200 unrelated control subjects. The authors could observe a significantly higher frequency of the H216 variant in dystonic patients lacking ∆GAG as compared with controls.

The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis

“…One study revealed an association of a haplotype (constructed from rs2296793, rs1182 and rs3842225) with sporadic dystonia [36] while another one revealed a strong association of rs13283584 with idiopathic dystonia [38]. Association of rs1801968 with primary dystonia was reported in three studies [33, 39, 41] while another one revealed significant association only in cases with positive family history [32]. Association or a tendency for association of rs1182 was reported in three studies [37, 38, 40].…”

Μελέτη Γενετικών Πολυμορφισμών Σε Ασθενείς Με Εστιακή Δυστονία

“…Ωζηόζν, ηα απνηειέζκαηα από ηηο κειέηεο αζζελώλ-καξηύξσλ έρνπλ δώζεη αληηθαηηθά απνηειέζκαηα, ελώ επίζεο νη ζπζρεηίζεηο επεξεάδνληαη από ηελ θαηαλνκή ηεο δπζηνλίαο ζην ζώκα, ηελ εζληθόηεηα θαη άιιεο ζπλνδέο θαηλνηππηθέο εθδειώζεηο. Έρνπλ δηεμαρζεί κέρξη ζήκεξα αξθεηέο κειέηεο αζζελώλ καξηύξσλ [37,41,43,[56][57][58][59][60][61][62][63][64][65][66][67][68][69][70] θαη έρνπλ δηεξεπλεζεί αξθεηέο γελεηηθέο παξαιιαγέο ηνπ TOR1A γνληδίνπ (rs1801968, rs2296793, rs1182, rs3842225, rs13283584, rs11787741, rs13297609, rs2287367, rs1043186 θαη rs35153737). Δθηόο από ηηο κειέηεο αζζελώλ-καξηύξσλ, έρνπλ εληνπηζηεί δηάθνξεο παξαιιαγέο κέζσ ειέγρνπ (screening) γηα δηάθνξεο κεηαιιάμεηο ζην TOR1A γνλίδην (rs766483672, rs80358233, rs75881350, rs1183, rs563498119, rs573629050, rs1045441, rs144572721) [71].…”