Synonymous polymorphism rs201256011 in dopamine receptor type 2 gene is associated with schizophrenia and PANSS score in Pakistani population: A first report

Aim: Variations of dopamine receptor type 2 (DRD2) are among the key factors involved in the pathology of schizophrenia. Presence of certain SNPs in DRD2 gene also amend patients' response to antipsychotics. Keeping in view the genetic diversity among populations and important role of DRD2 polymorphisms in schizophrenia we aimed to study two of its SNPs rs1801028 and rs6277 in patients with schizophrenia from Pakistan.Methods: A total of 100 schizophrenia cases and 100 healthy controls were recruited. DNA was extracted from whole blood followed by PCR, Sanger sequencing and genotyping of two SNPs i.e. rs1801028 and rs6277.Results: No association of rs1801028 and rs6277 was found with schizophrenia in Pakistani population (P>0.05). Highlight of our study is the association of polymorphism rs201256011 with schizophrenia (P=0.001), which is being reported for the first time. Significant association of rs201256011 was also found with PANSS negative, cognitive and total score (PConclusion: In conclusion, genetic variants rs1801028 and rs6277 of DRD2 are not associated with schizophrenia in Pakistani population. While, previously unreported polymorphism rs201256011 have shown significant association with schizophrenia and its severity. A large scale multicenter replication study is required to confirm the association of this SNP with schizophrenia.