What is it about?

Functional SNPs in candidate genes could be used to decipher drug targets in diseases such as schizophrenia. Here we have Identified a SNP each in two candidate genes to be associated with endophenotypes of Schizophrenia such as tardive dyskinesia and Cognition. Further association of these SNPs with clinical parameters of Schizophrenia was assessed through sub-cohort analysis. In this study an SNP from one of the Schizophrenia associated SNPs in a Genome-wide Association Study in Caucasian population was assessed for the first time for association with the disease in a genetically distinct Indian population.

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Why is it important?

While we were able to identify the DBH SNP to be associated with processing speed of working memory, the GWAS associated SNP in CACNA1C was found to be associated with efficiency of spatial ability and Abnormal Involuntary Movement Scale (AIMS) scores of tardive dyskinesia in our schizophrenia case-control study cohort. Through sub cohort analysis, we were able to show that the GWAS SNP had an effect on positive scale scores and disorganized/ concrete factor of Positive and Negative syndrome scale (PANSS) respectively in Tardive dyskinesia positive and negative sub cohorts of schizophrenia subjects. Apart from this we were able to identify an interaction of the health status and CACNA1C SNP (Health status x rs1006737) with processing speed of spatial memory where subjects carrying the risk allele had a higher score than the homozygotes for the wildtype allele in healthy controls whereas the case was reverse in schizophrenia subjects. Furthermore, in Healthy controls we were able to identify an association of the DBH SNP (rs1108580) with accuracy of emotion.


Personalized medicine could be tenable only through representation of genetic studies from different ethnicities and sub cohort analysis. As with the case with clothes that a particular size may not fit all, a scenario may arise with burgeoning genetic information, where all subjects with a disease may not be given the same drug or same dose of it, but tailored therapies suitable for them according to their genetic status and or their genetic background.

Dr. Toyanji Joseph Punchaichira
University of Delhi

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This page is a summary of: Effect of rs1108580 of DBH and rs1006737 of CACNA1C on Cognition and Tardive Dyskinesia in a North Indian Schizophrenia Cohort, Molecular Neurobiology, July 2023, Springer Science + Business Media, DOI: 10.1007/s12035-023-03496-4.
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