Potential Role of Brain-Derived Neurotrophic Factor and Dopamine Receptor D2 Gene Variants as Modifiers for the Susceptibility and Clinical Course of Wilson ’s Disease

This study aims to identify the potential association betweenBDNF andDRD2 gene polymorphisms and WD and its clinical characteristics. A total of 164 WD patients and 270 controls from India were included in this study. TwoBDNF polymorphisms [p.Val66Met (c.G196A) and c.C270T] and theDRD2 Taq1A (A2/A1 or C/T) polymorphism were examined for their association with WD and some of its clinical attributes, using polymerase chain reaction, restriction fragment length digestion, and bidirectional sequencing. The C allele and CC genotype ofBDNF C270T were significantly overrepresented among controls compared to WD patients. In addition, a significantly higher proportion of the allele coding for Val and the corresponding homozygous genotype ofBDNF Val66Met polymorphism was found among WD patients with age of onset later than 10  years. Furthermore, the A1A1 genotype ofDRD2 Taq1A polymorphism was significantly more common among WD patients with rigidity. Our data suggest that bothBDNF andDRD2 may act as potential modifiers of WD phenotype in the Indian context.
Source: NeuroMolecular Medicine - Category: Neurology Source Type: research