AUTHOR=Zai Clement C. , Tiwari Arun K. , Zai Gwyneth C. , Freeman Natalie , Pouget Jennie G. , Greco James , Tampakeras Maria , Shaikh Sajid A. , Herbert Deanna , Emmerson Heather , Cheema Sheraz Y. , Braganza Nicole , Müller Daniel J. , Voineskos Aristotle N. , Remington Gary , Kennedy James L. 

TITLE=Association Study of the Complement Component C4 Gene in Tardive Dyskinesia

JOURNAL=Frontiers in Pharmacology

VOLUME=10

YEAR=2019

URL=https://www.frontiersin.org/journals/pharmacology/articles/10.3389/fphar.2019.01339

DOI=10.3389/fphar.2019.01339

ISSN=1663-9812

ABSTRACT=<p>Tardive dyskinesia (TD) is a movement disorder that may develop in schizophrenia patients being treated long-term with antipsychotic medication. TD interferes with voluntary movements and leads to stigma, and can be associated with treatment non-adherence. The etiology of TD is unclear, but it appears to have a genetic component. There is emerging evidence of immune dysregulation in TD. In the current study, we set out to investigate the complex schizophrenia-associated complement component 4 (<italic>C4</italic>) gene for possible association with TD occurrence and TD severity as assessed by the Abnormal Involuntary Movement Scale (AIMS) in a sample of 129 schizophrenia patients of European ancestry. We have genotyped the copy numbers of long and short forms of <italic>C4</italic>A and <italic>C4</italic>B gene variants in 129 European ancestry patients with schizophrenia or schizoaffective disorder. We did not find predicted <italic>C4</italic>A or <italic>C4</italic>B expression to be nominally associated with TD risk or severity. However, we found the number of copies of <italic>C4</italic>BL to be nominally associated with TD severity (<italic>p</italic> = 0.020).</p>