Association of NOTCH4 and CYP2E1 Genetic Variants With Schizophrenia in the Bangladeshi Population: A Case-Control Study

Abstract

Background and aims: Schizophrenia (SCZ) is among the most persistent and devastating psychological problems. Different genetic polymorphisms are responsible for the predisposition of SCZ, and we screened NOTCH4 (rs2071287, rs204993) and CYP2E1 (rs2070673) polymorphisms in this study to find the connection with SCZ development.

Methods: We investigated a total of 420 samples (210 patients and 210 controls) and used the PCR-RFLP technique to genotype all SNPs. For statistical analyses, SPSS (version 25.0) was applied.

Results: In the case of NOTCH4 rs2071287, no evidence of a link was found in any genetic models, whereas NOTCH4 rs204993 and CYP2E1 rs2070673 showed a significant linkage in four genetic models with SCZ risk (for NOTCH4 rs204993, additive model 2: OR = 3.39, CI = 1.84-6.23, p = 0.0001; dominant: OR = 1.84, CI = 1.22-2.76, p = 0.0032; recessive: OR = 2.67, CI = 1.53-4.64, p = 0.0005; allelic: OR = 1.75, CI = 1.32-2.30, p = 0.0001 and for CYP2E1 rs2070673, additive model 2: OR = 0.39, CI = 0.22-0.69, p = 0.0013; recessive: OR = 0.45, CI = 0.29-0.68, p = 0.0002; overdominant: OR = 1.49, CI = 1.02-2.19, p = 0.0408; allelic: OR = 0.61, CI = 0.46-0.80, p = 0.0004).

Conclusions: The findings of our study suggest that the polymorphisms NOTCH4 rs204993 and CYP2E1 rs2070673 in the Bangladeshi ethnicity are connected to the risk of SCZ.

Keywords: CYP2E1; NOTCH4; PCR–RFLP; genotyping; schizophrenia.

Figure 1

Genotype‐tissue expression (GTEx) of NOTCH4 rs2071287polymorphism in (A) Brain – Cerebellum, (B) Brain – Cortex; NOTCH4 rs204993 in (C) Brain – Cerebellum, (D) Brain – Cortex; CYP2E1 rs2070673 in (E) Brain – Cerebellum, (F) Brain – Cortex indicate a significant difference in the expression between the mutant genotypes compared to the wild genotypes.