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Schizophrenia is one of the most severe and disabling among mental disorders affecting up to 1% of the world population
and is characterized by cognitive impairments linked to behavioral changes. It is proposed that both pre- and postnatal
as well as genetically determined abnormalities of the apoptotic processes are among factors responsible for the development
of schizophrenia. The activation of apoptosis is controlled at multiple checkpoints within the cell. The proapoptotic Bax and
antiapoptotic Bcl-2 are membrane-bound poreforming proteins that interact through heterodimerization. The Bax/Bcl-2 ratio
appears more important than the individual Bax or Bcl-2 level in determining a cell�s vulnerability to apoptosis; high Bax/Bcl-2
ratios lead to greater apoptotic activity. However, it is yet unclear whether these alterations are genetically determined or caused
by other factors. In the present study, we for the first time evaluated the association of single nucleotide polymorphisms (SNPs)
rs1057369 (A>G) and rs956572 (G>A), rs1801018 (A>G) of Bax and Bcl-2 encoding genes, BAX and Bcl2, respectively, with
schizophrenia in Armenian population using polymerase chain reaction with sequence-specific primers. BAX rs1057369 SNPs
was found negatively associated with this disorder; the presence of BAX rs1057369*G minor allele, especially in homozygous
form, was associated with decreased risk of developing schizophrenia, whereas no association between schizophrenia and BCL2
rs956572 and rs1801018 polymorphisms was revealed. Based on the obtained results we concluded that the rs1057369*G minor
allele of BAX may have a protective effect relative to schizophrenia at least in Armenian population. In addition, this effect is most
pronounced in individuals with GG homozygous genotype.
Biography
Kristina Pirumyan has completed her PhD from Yerevan State University. She is the Senior Researcher of the Laboratory of Human Genomics and Immunomics in Institute of Molecular Biology, National Academy of Sciences of the Republic of Armenia (NAS RA). She has published more than 20 papers in reputed and national journals.