Schizophrenia (SCZ) is a strong heritable disorder that involves multiple gene combination, each conferring a little increase in the burden to the disease. Due to the complexity of disease, it is difficult to find susceptible genes and promising biomarker. The true etiology of SCZ is still not fully understood, however, recent studies on SCZ molecular genetics, with a focus on candidate genes approach affirms and predicate association with SCZ. Some investigators have reported the involvement of environment factors in the formation and progression of the Schizophrenia. Literature has been surveyed that reports association between genetic variation and SCZ also between genetic polymorphisms and clinical outcomes. The present study focuses on human populations to review SNPs of various genes which show best association with the disease. We have identified 60 published case control studies that have studied association of various SNPs in different 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.
Schizophrenia (SCZ) is a serious mental disorder that has complex genetic architecture. It has complex mode of transmission and inheritance which is associated with environmental, developmental and genetic set off. It is a strong heritable disorder that involves multiple gene combination, each conferring a little increase in the burden to the disease. Due to the complexity of disease, it is difficult to find susceptible genes and promising biomarker. The true etiology of SCZ is still not fully understood, however, recent studies on SCZ molecular genetics, with a focus on candidate genes approach affirms and predicate association with SCZ. Some investigators have reported the involvement of environmental factors in the formation and progression of the Schizophrenia. Literature has been surveyed that reports the association between genetic variation and SCZ also between genetic polymorphisms and clinical outcomes. The present study focuses on human populations to review SNPs of various genes which show best association with the disease. We have identified 60 published case control studies that have studied association of various SNPs in different population.
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