Genetic evidence for association of NOTCH4 variant rs2071287 with schizophrenia susceptibility in the North Indian population

BACKGROUND: Neurogenic locus notch homolog 4 (NOTCH4) regulates signaling pathways associated with neuronal maturation, a process involved in the development and patterning of the central nervous system. The NOTCH4 gene has also been identified as a possible susceptibility gene for schizophrenia (SCZ). AIM: The study aimed to determine the association of NOTCH4 polymorphisms with the risk of SCZ in the North Indian population of the Jammu region. METHODS: The single nucleotide polymorphism genotyping for NOTCH4 variant rs2071287 was done by Sanger’s sequencing method, and the other variant rs3131296 was done by TaqMan assay method for 207 SCZ cases and 304 healthy controls of North Indian origin. RESULTS: This association study suggested that the rs2071287 was found to be significantly associated with SCZ. Moreover, the GG genotype of rs2071287 was observed to be associated with a higher risk for SCZ (P-value = 6.45 × 10 (− 5); OR = 1.71; 95% CI, 1.31–2.24). CONCLUSION: To establish the potential biomarker role of this variant, large-scale association analyses in other populations is required.