Future directions in genome-wide association studies of schizophrenia spectrum disorders

Nataliia V. Zakharova; Igor I. Nizamutdinov; Veronika V. Musatova; Valery V. Ilinsky; Anna Yu. Morozova; Mariia O. Bocharova; Aleksandr M. Reznik; Georgiy P. Kostyuk

doi:10.21638/spbu11.2018.107

Authors

Nataliia V. Zakharova Pirogov Russian National Research Medical University, 1, Ostrovitianov ul., Moscow, 117997, Russian Federation ; Psychiatric Clinical Hospital 1 named after N. A. Alekseev, 2, Zagorodnoe sh., Moscow, 115191, Russian Federation
Igor I. Nizamutdinov Genotek Ltd., 17, build 1, Nastavnicheskii per., Moscow, 105120, Russian Federation
Veronika V. Musatova Genotek Ltd., 17, build 1, Nastavnicheskii per., Moscow, 105120, Russian Federation
Valery V. Ilinsky Genotek Ltd., 17, build 1, Nastavnicheskii per., Moscow, 105120, Russian Federation ; Institute of Biomedical Chemistry, 10, Pogodinskaya street, Moscow, 119121, Russian Federation
Anna Yu. Morozova Psychiatric Clinical Hospital 1 named after N. A. Alekseev, 2, Zagorodnoe sh., Moscow, 115191, Russian Federation ; V. Serbsky National Medical Research Center for Psychiatry and Narcology, 23, Kropotkinskii per., Moscow, 119991, Russian Federation
Mariia O. Bocharova King’s College London, 16, De Crespigny Park, London, SE5 8AF, UK
Aleksandr M. Reznik Moscow State University of Food Production, 11, Volokolamskoe sh., Moscow, 125080, Russian Federation
Georgiy P. Kostyuk Moscow State University of Food Production, 11, Volokolamskoe sh., Moscow, 125080, Russian Federation

DOI:

https://doi.org/10.21638/spbu11.2018.107

Abstract

The rapid expansion of diagnostic technologies in general and of the genome-wide association studies method in particular brings us closer to the understanding of the etiopathogenetic fundamentals of endogenous mental disorders. The amount of accumulated experience in genome-wide association studies allows one to assess the importance of specific genetic markers in the development of the diseases of interest. The introduction of screening systems and the assessment of disease prognosis is yet to be implemented, due to conceptual and methodological contradictions. The present review aims at analyzing the current progress in the field of genetic studies of schizophrenia spectrum disorders. The prospects and limitations of existing methods and the obstacles to the efficient translational application of the achievements of GWAS and candidate gene studies are discussed. Along with the still poor understanding of the etiology and pathogenesis of schizophrenia spectrum disorders, such issues as the ongoing debate regarding the correct classification, as well as the large degree of symptom heterogeneity within this group of conditions, remain a cornerstone in biological
research. A more accurate approach to phenotyping, including the application of deep phenotyping techniques, is required to form more homogenous samples for future genome-wide association and candidate gene studies of schizophrenia spectrum disorders.

Keywords:

schizophrenia, genetic marker, single nucleotide polymorphism, genome-wide association study, phenotyping

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