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Genome-wide association study of depression symptoms using online self-questionnaires in the Russian population cohort: preliminary results

Published online by Cambridge University Press:  01 September 2022

A. Kibitov*
Affiliation:
Serbsky National Medical Research Center on Psychiatry and Addictions, Molecular Genetics Laboratory, Moscow, Russian Federation
A. Rakitko
Affiliation:
Genotek Ltd., N/a, Moscow, Russian Federation
E. Kasyanov
Affiliation:
Bekhterev National Medical Center for Psychiatry and Neurology, Translational Psychiatry, Saint-Petersburg , Russian Federation
D. Yermakovich
Affiliation:
Genotek Ltd., N/a, Moscow, Russian Federation
A. Kibitov
Affiliation:
Bekhterev National Medical Research Center for Psychiatry and Neurology, Translational Psychiatry Department, Saint-Petersburg , Russian Federation
G. Rukavishnikov
Affiliation:
Bekhterev National Medical Center for Psychiatry and Neurology, Translational Psychiatry, Saint-Petersburg , Russian Federation
V. Ilinsky
Affiliation:
Genotek Ltd., N/a, Moscow, Russian Federation
V. Golimbet
Affiliation:
Mental Health Research Center, Clinical Genetics Laboratory, Moscow, Russian Federation
A. Shmukler
Affiliation:
Serbsky National Medical Research Center on Psychiatry and Addictions, Department Of Psychiatry, Moscow, Russian Federation
N. Neznanov
Affiliation:
Bekhterev National Medical Center for Psychiatry and Neurology, Geriatric Psychiatry, Saint-Petersburg , Russian Federation
G. Mazo
Affiliation:
Bekhterev National Medical Center for Psychiatry and Neurology, Translational Psychiatry, Saint-Petersburg , Russian Federation
*
*Corresponding author.

Abstract

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Introduction

Depression is a chronic, recurrent mental disorder with a moderate level of genetic impact. Modern GWAS of depression require extra-large sample sizes and new effective, clinically sensitive, objective and simple to fill online phenotyping tools for population studies are necessary today.

Objectives

Aim: to test online phenotyping tools based on clinical and psychometric instruments to evaluate depressive symptoms in population cohort for using in GWAS

Methods

Participants: 2610 Russian-speaking respondents- clients of Genotek Ltd., provider of genetic testing services in Russian Federation. The online survey included HADS-D (Hospital Anxiety and Depression Scale - depression subscale), original questionnaire adapted for self-report from major depression DSM-5 criteria, questions about sex and age. Three research phenotypes were defined: quantitative “HADS-D score” and two categorical “HADS-D depression” (cut-off 8 points) - 20.63 %, “DSM depression” 16.73 %. DNA samples obtained from saliva were genotyped on Illumina Infinium GSA v1.0/v2.0/v3.0 microarrays. GWAS analysis was performed independently for each of the research phenotypes.

Results

None of the signals reached genome-wide significance (p value 10-8), but some signals with subthreshold significance were identified including four signals in the genes encoding proteins: “DSM_Depression”: rs2131596 in GRIP1 (p=3.682e-06,β=0.6965), rs11158021 in SAMD4A (p=2.841e-06, β=0.6762), “HADS-D Depression”: rs2425793 in CDH22 (p=4.408e-07, β=1.539), rs36006890 in PDIA6 (p = 6.529e-07, β=1.549).

Conclusions

Preliminary results of the first GWAS of depression symptoms in the Russian population are acceptable and confirm the accuracy of the research strategy using online phenotyping tools based on clinical and psychometric instruments and provide basis for further studies.

Disclosure

The study was supported by Russian Science Foundation Grant # 20-15-00132

Type
Abstract
Creative Commons
Creative Common License - CCCreative Common License - BY
This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution, and reproduction in any medium, provided the original work is properly cited.
Copyright
© The Author(s), 2022. Published by Cambridge University Press on behalf of the European Psychiatric Association
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