Biomacromolecular Journal

Biomacromolecular Journal

Association between single nucleotide polymorphisms in PTEN and susceptibility to schizophrenia in an Iranian population

Document Type : Article

Authors
Department of Biology, Faculty of Science, University of Sistan and Baluchestan, Zahedan, Iran
10.22034/bmmj.2026.733624
Abstract
Schizophrenia is a mental disorder that affects the world's population, and genetic and environmental factors play a role in its development. Polymorphism research can serve as a marker for disease in identifying individuals at higher risk of developing the disease.
This study was conducted with the aim of investigating PTEN gene polymorphisms (rs12569998, rs2299939) and the risk of schizophrenia (SCZ).
DNA was isolated from 108 schizophrenic blood samples and 108 control group samples, and then the Tetra ARMS-PCR technique was used to investigate rs12569998 and rs2299939 gene polymorphisms. The frequency of genotypes, alleles, and the Hardy-Weinberg equilibrium were evaluated in this case-control study.
AC, CC, and AC+CC (OR = 0.84, P = 0.85; OR = 0.8, P = 0.88; OR = 0.83, P = 0.86) and GT, TT, GT+TT (OR = 0.52, P = 0.45; OR = 0.33, P = 0.23; OR = 0.5, P = 0.4) were the results of the PTEN gene's SNP analysis in rs2299939 A/C and rs12569998 T/G. There was no significant difference between SCZ and the control group (p>0.05).
According to this study, these two SNPs are not risk factors for SCZ, and the frequency of specific genotypes and alleles among other genes should be examined to diagnose SCZ. Further research with larger sample sizes in different genetic populations is recommended to validate the current data.
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