Genome-Wide Association Study: Analysis of Association of Polymorphic Loci in 4p15.2 and 20q13.31 Regions with Paranoid Schizophrenia

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Abstract

Over fifteen years, genome-wide association studies (GWAS) have identified several million polymorphic risk markers for schizophrenia, significantly advancing our understanding of the genetic architecture of schizophrenia. The aim of this study was to study genetic risk factors for the development of schizophrenia in a genome-wide association analysis in Russians, Tatars, and Bashkirs from the Republic of Bashkortostan. The studied sample consisted of 816 patients with paranoid schizophrenia and 989 healthy individuals. GWAS genotyping of DNA samples was carried out on the PsychChip, which included 610 000 single nucleotide polymorphic variants (SNPs). As a result of the study, for the first time, an association of SNPs rs73254185 (4p15.2) and rs587778384 of the GNAS gene (20q13.31) with the risk of paranoid schizophrenia in individuals of different ethnicity, Russians, Tatars and Bashkirs living in the Republic of Bashkortostan, was established, which probably may indicate involvement of PI4K2B and GNAS genes localized in these chromosomal regions in the pathogenesis of schizophrenia.

About the authors

A. E. Gareeva

Institute of Biochemistry and Genetics, Ufa Federal Research Center of the Russian Academy of Sciences; Bashkir State Medical University

Author for correspondence.
Email: annagareeva@yandex.ru
Russia, 450054, Ufa; Russia, 450008, Ufa

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