Baranova et al. BMC Medical Genetics 2019, 20(Suppl 1):50
https://doi.org/10.1186/s12881-019-0769-z

INTRODUCTION

Open Access

Medical genetics studies at BGRS
conference series
Ancha V. Baranova1,2, Mikhail Yu. Skoblov2, Elena N. Voropaeva3, Piramanayagam Shanmughavel4
and Yuriy L. Orlov3,5*
From 11th International Multiconference “Bioinformatics of Genome Regulation and Structure\Systems Biology” - BGRS\SB2018
Novosibirsk, Russia. 20-25 August 2018
This Special Issue of BMC Medical Genetics presents thepapers materials discussed at the biomedical session of themulti-conference “Bioinformatics of Genome Regulationand Structure\Systems Biology” (BGRS\SB-2018) (http://conf.bionet.nsc.ru/bgrssb2018/en/). This international biannual conference takes place in Novosibirsk since 1998
gathering professionals in genomics, genetics, and biomedicine. To accompany this Special Issue, other Special
Issues in the fields of genomics, bioinformatics, plant biology, evolutionary biology and systems biology are published as a part of following series: BMC MedicalGenomics, BMC Bioinformatics, BMC Systems Biology,
BMC Evolutionary Biology and BMC Plant Biology [1–4],
as well as BMC Genomics and BMC Genetics issues.
Medical genetics problems have been discussed in the articles from previous post-conference journal issues [5–8].
In year 2017, respective conference highlights were organized into the Special Issues with reports from Belyaev
Readings-2017 memorial event (http://conf.bionet.nsc.ru/belyaev100/en) [9–12]. Note medical genetics topics fromthe conference series were presented earlier at BMC Medical Genomics [1, 12] and BMC Neuroscience [9] as well
as BMC Genetics [8, 11] special issues.
The papers comprising this issue of BMC Medical Genetics were discussed at the BGRS\SB–affiliated symposium“Systems Biology and Biomedicine” (SBioMed-2018)(http://conf.bionet.nsc.ru/ishg2018/en/). A brief summaryof these papers and related works is outlined below.
We start our Special Issue by the paper by Snezhkina
and co-authors discussing novel potential causative genes
in carotid paragangliomas [13]. Carotid paragangliomas* Correspondence: orlov@bionet.nsc.ru
3
Research Institute of Internal and Preventive Medicine - Branch of theInstitute of Cytology and Genetics SB RAS, 630090 Novosibirsk, Russia
5Novosibirsk State University, 630090 Novosibirsk, Russia
Full list of author information is available at the end of the article

are rare neuroendocrine tumors that arise from theparaganglion at the bifurcation of the carotid artery andare responsible for approximately 65% of all head andneck paragangliomas. Unlike other types of cancer, there
is no test that determines benign from malignant tumors.
Genetic basis behind the development of these tumors is
not fully elucidated, and the molecular mechanisms
underlying CPGL pathogenesis remain unclear [14].
Analysis of exome and transcriptome tumor samplesallowed Snezhkina et al. to determine novel potential
causative genes.
Yurchenko et al. [15] presented the exome-wide surveyof the Siberian Caucasian population. This study hascompared allele frequencies of Siberian Caucasian andEuropean populations from 1000 Genomes Project andidentified significant population differentiation as well asa higher proportion of the Finnish genetic component in
the Siberian sample. Several of the allelic differences correspond to medically and pharmacogenetically important
genes, and these variants will be studied in future on an
expanded dataset with associated clinical data.
Maria Fedorova and colleagues [16] used colon adenocarcinoma TCGA RNA-Seq dataset to show that CpG island methylator phenotype, which is common in
carcinomatous malignization of serrated adenomas, isassociated with the shift in an energy metabolism andsufficient activation of immune-associated pathways.
These findings were confirmed by qRT-PCR validationin additional cohort of patients. The ANDSystem toolfor association studies in biomedicine was presented
earlier at BMC Systems Biology special issues [17].
Diana Osmanova and her colleagues [18] provide uswith insights into involvement of dopaminergic pathways in antipsychotic-induced hyperprolactinemia by
uncovering statistically significant association between acertain polymorphic variant of gene MAOB, which© The Author(s). 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0
International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, andreproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to
the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver(http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Baranova et al. BMC Medical Genetics 2019, 20(Suppl 1):50

encodes dopamine catabolizing enzyme and the development of hyperprolactinemia in response to any antipsychotic drug or their combination, and two other,risperidone/paliperidone–responsive variants in SLC6A3,
which encodes dopamine transporter. Problem of depression studies were discussed by the same authors’group at their recent article at Frontiers in Genetics[19], also being part of BGRS-2018 special issue.
Therapeutical strategies for anxiety-like behavior treatment continued by the works of Fedotova et al. [20].
Here Julia Fedotova discussed vitamin D3 treatment differentially affect anxiety-like behavior in the old ovariectomized female rats treated with low dose of17β-estradiol [21]. After the menopause or surgical removal of ovaries, females are faced with estrogen deficiency, manifested in mood disturbances, such as
anxiety and depression. Hormonal replacement therapy
used to treat these symptoms has numerous side effects
and not always efficient. Fedotova used rat model toevaluate the effects of repeated vitamin D3 administration on anxiety-related behavior in the middle-aged andold female rats with long-term estrogen deficiency. She
determined that repeated systemic treatment with vitamin D3 decreased the symptoms on anxiety-like behavior in the old female rats after long-term ovariectomy.
Extension of this work for human patients may provide
a safe and efficient alternative therapy for many women.
Hence, we present our readers with a wide array of reports describing recent breakthrough in genomics-driven
understanding of a molecular pathophysiology of a varietyof human disease, covering a spectrum from Mendeliandisorders to chronic multifactorial conditions and cancer.
At BGRS-2018, the symposium “Systems Biology and Biomedicine” (SBioMed-2018) was also attended by young scientists who gathered in Novosibirsk for a School “SystemsBiology and Bioinformatics” (SBB-2018) (http://conf.bionet.nsc.ru/bgrssb2018/en/school/). In previous years, thematerials of SBB Schools were published in Special Issuesof BMC as well [7, 22]. We invite our readers worldwide toattend our next event - Systems Biology and Bioinformatics
Young Scientists School SBB-2019 which will be held in
Novosibirsk, Russia 24-28 June 2019 (http://conf.bionet.
nsc.ru/sbb2019/en/). Next BGRS\SB-2020 multiconference
and biomedical symposium will be organized again in June
2020, in Novosibirsk, Russia.
Acknowledgements
We are grateful to Professors N.A. Kolchanov, V.V. Klimontov and A.V.
Kochetov for organization of the multi-conference, “Systems Biology andBiomedicine” symposium and providing platform for international medicalgenomics research. We thank the Russian Foundation of Basic Research forthe conference organization support, Zhejiang Bioinformatics Society (Prof.
Ming Chen) for logistic support of conference participants, Novosibirsk State
University, Institute of Cytology and Genetics SB RAS (budget project 03242019-0040) and RFBR the conference support.
The guest editors of the special issue are grateful to the conference
committee members and reviewers who helped in the peer-review of thePage 2 of 56

articles as well as in editing and issue preparation: Tatiana Tatarinova (LaVerne University, CA, USA), Irina Yushenova (Josephine Bay Paul Center for
Comparative Molecular Biology and Evolution, Woods Hole, USA), Oleg
Shuvalov and Nikolai Barlev (Institute of Cytology, St.Petersburg, Russia), Petr
Slominskiy (Institute of Molecular Genetics, Moscow, Russia), Maria Tikhonova(Institute of Physiology and Basic Medicine, Novosibirsk, Russia), Vladimir
Babenko (Institute of Cytology and Genetics SB RAS, Russia), Mariam Muradova and Denis Baranenko (ITMO University, St.Petersburg, Russia), SergiiTukaiev (National Taras Shevchenko University of Kyiv, Ukraine), Andrei Krivtsov (Dana-Farber Cancer Institute, Boston, USA), Hongyu Yang (Peking University, Shenzhen Hospital, Shenzhen, China), Andre Marakhonov (MedicalGenetics Center, Moscow, Russia), Elza Khusnutdinova (Institute of biochemistry and genetics, Ufa, Russia), Ranajit Das (Manipal Academy of Higher Education, Manipal, Karnataka, India).
Funding
This article did not receive sponsorship for publication.
About this supplement
This article has been published as part of BMC Medical Genetics Volume 20Supplement 1, 2019: Selected articles from BGRS\SB-2018: medical genetics. Thefull contents of the supplement are available online at https://bmcmedgenet.biomedcentral.com/articles/supplements/volume-20supplement-1.
Authors’ contributions
AVB and YLO are guest editors of the special post-conference issues andProgram Committee members of BGRS\SB-2018 conference. MYS, ENV, PS
are Organizing Committee members of “Systems Biology and Biomedicine”
symposium at BGRS\SB-2018. All the authors read, revised and approved thefinal manuscript.
Competing interests
The authors declare that they have no competing interests.

Publisher’s NoteSpringer Nature remains neutral with regard to jurisdictional claims inpublished maps and institutional affiliations.
Author details
1
School of Systems Biology, George Mason University, Fairfax, VA, USA.
2
Research Centre for Medical Genetics, 115478 Moscow, Russia. 3ResearchInstitute of Internal and Preventive Medicine - Branch of the Institute ofCytology and Genetics SB RAS, 630090 Novosibirsk, Russia. 4Bharathiar
University, Coimbatore, Tamilnadu 641046, India. 5Novosibirsk State
University, 630090 Novosibirsk, Russia.
Published: 9 April 2019
References
1. Baranova AV, Klimontov VV, Letyagin AY, Orlov YL. Medical genomics
research at BGRS-2018. BMC Medical Genomics. 2019;12(Suppl 2). https://doi.org/10.1186/s12920-019-0480-0.
2. Orlov YL, Hofestädt R, Baranova AV. Systems biology research at BGRS-2018. BMC
Systems Biology. 2019;13(Suppl 1). https://doi.org/10.1186/s12918-019-0685-z.
3. Tatarinova TV, Chen M, Orlov YL. Bioinformatics research at BGRS-2018. BMC
Bioinformatics. 2019;20(Suppl 1):33. https://doi.org/10.1186/s12859-018-2566-7.
4. Orlov YL, Baranova AV, Kolchanov NA, Moroz LL. Evolutionary biology andbiodiversity research at BGRS-2018. BMC Evolutionary Biology. 2019;19(Suppl1). https://doi.org/10.1186/s12862-019-1368-5.
5. Orlov YL, Baranova AV, Hofestadt R, Kolchanov NA. Computational
genomics at BGRS\SB-2016: introductory note. BMC Genomics. 2016;
17(Suppl 14):996.
6. Baranova AV, Orlov YL. Evolutionary biology at BGRS\SB-2016. BMC Evol Biol.
2017;17(Suppl 1):21.
7. Orlov YL, Kolchanov NA, Hofestädt R, Wong L. Editorial - bioinformatics
development at the BGRS\SB conference series: 10th anniversary. J
Bioinform Comput Biol. 2017;15(2):1702001.
8. Orlov YL, Baranova AV, Markel AL. Computational models in genetics at
BGRS\SB-2016: introductory note. BMC Genet. 2016;17(Suppl 3):155.

Baranova et al. BMC Medical Genetics 2019, 20(Suppl 1):50

9.
10.
11.
12.
13.

14.

15.

16.

17.

18.

19.

20.

21.

22.

Orlov YL, Moroz LL, Baranova AV. Neuroscience researches at Belyaev
conference-2017. BMC Neurosci. 2018;19(Suppl 1):14.
Orlov YL, Baranova AV, Salina EA. Computational plant bioscience at
BGRS\SB-2016: introductory note. BMC Plant Biol. 2016;16(Suppl 3):243.
Orlov YL, Baranova AV, Tatarinova TV, Kolchanov NA. Genetics at Belyaev
conference - 2017: introductory note. BMC Genet. 2017;18(Suppl 1):116.
Orlov YL, Fernandez-Masso JR, Chen M, Baranova AV. Medical genomics atBelyaev conference - 2017. BMC Med Genet. 2018;11(Suppl 1):11.
Snezhkina AV, Lukyanova EN, Zaretsky AR, Kalinin DV, Pokrovsky AV,Golovyuk AL, Krasnov GS, Fedorova MS, Pudova EA, Kharitonov SL,Melnikova NV, Alekseev BY, Kiseleva MV, Kaprin AD, Dmitriev AA,Kudryavtseva AV. Novel potential causative genes in carotid
paragangliomas. BMC Medical Genetics. 2019;20(Suppl 1). https://doi.org/10.
1186/s12881-019-0770-6.
Zhikrivetskaya SO, Snezhkina AV, Zaretsky AR, Alekseev BY, Pokrovsky AV,Golovyuk AL, et al. Molecular markers of paragangliomas/pheochromocytomas. Oncotarget. 2017;8(15):25756–82.
Yurchenko AA, Yudin NS, Voevoda MI. Exome-wide survey of the Siberian
Caucasian population. BMC Medical Genetics. 2019;20(Suppl 1). https://doi.
org/10.1186/s12881-019-0772-4.
Fedorova MS, Krasnov GS, Lukyanova EN, Zaretsky AR, Dmitriev AA, Melnikova
NV, Moskalev AA, Kharitonov SL, Pudova EA, Guvatova ZG, Kobelyatskaya AA,Ishina IA, Slavnova EN, Lipatova AV, Chernichenko MA, Sidorov DV, Popov AY,Kiseleva MV, Kaprin AD, Snezhkina AV, Kudryavtseva AV. The CIMP-highphenotype is associated with energy metabolism alterations in colon
adenocarcinoma. BMC Medical genetics. 2019;20(Suppl 1). https://doi.org/10.
1186/s12881-019-0771-5.
Ivanisenko VA, Saik OV, Ivanisenko NV, Tiys ES, Ivanisenko TV, Demenkov PS,
et al. ANDSystem: an Associative Network Discovery System for automatedliterature mining in the field of biology. BMC Syst Biol. 2015;9 Suppl 2:S2.
Osmanova DZ, Freidin MB, Fedorenko OY, Pozhidaev IV, Boiko AS, Vyalova
NM, Tiguntsev VV, Kornetova EG, Loonen A, Semke AV, Wilffert B, Bokhan
NS, Ivanova SA. A pharmacogenetic study of patients with schizophrenia
from West Siberia gets insight into dopaminergic mechanisms ofantipsychotic-induced hyperprolactinemia. BMC Medical genetics. 2019;20(Suppl 1). https://doi.org/10.1186/s12881-019-0773-3.
Aftanas LI, Anisimenko MS, Berdyugina DA, Garanin AY, Maximov VN,Voevoda MI, Vyalova NM, Bokhan NA, Ivanova SA, Danilenko KV, KovalenkoSP. SIRT1 allele frequencies in depressed patients of European descent inRussia. Front Genet. 2019;9:686. https://doi.org/10.3389/fgene.2018.00686.
Fedotova J, Kubatka P, Büsselberg D, Shleikin AG, Caprnda M, Dragasek J,Rodrigo L, Pohanka M, Gasparova I, Nosal V, Opatrilova R, Qaradakhi T, Zulli
A, Kruzliak P. Therapeutical strategies for anxiety and anxiety-like disorders
using plant-derived natural compounds and plant extracts. Biomed
Pharmacother. 2017;95:437–46.
Fedotova J. Vitamin D3 treatment differentially affect anxiety-like behavior
in the old ovariectomized female rats and old ovariectomized female
treated with low dose of 17β-estradiol. BMC Medical Genetics. 2019;20(Suppl 1). https://doi.org/10.1186/s12881-019-0774-2.
Baranova AV, Orlov YL. The papers presented at 7th young scientists school"systems biology and bioinformatics" (SBB'15): introductory note. BMC
Genet. 2016;17(Suppl 1):20.

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