Skip to main content

ORIGINAL RESEARCH article

Front. Endocrinol.
Sec. Systems Endocrinology
Volume 16 - 2025 | doi: 10.3389/fendo.2025.1472754
This article is part of the Research Topic Integrated Diagnostics and Biomarker Discovery in Endocrinology and Biomedical Sciences: Volume II View all articles

EndoGene Database: reported genetic variants for 5926 Russian patients diagnosed with endocrine disorders

Provisionally accepted
Anton A. Buzdin Anton A. Buzdin 1Marianna Arsenovna Zolotovskaia Marianna Arsenovna Zolotovskaia 1*Sergey Roumiantsev Sergey Roumiantsev 1Aleksandra Emelyanova Aleksandra Emelyanova 1Olga Golounina Olga Golounina 1Polina Pugacheva Polina Pugacheva 1Daniil Luppov Daniil Luppov 1Anastasia Kuzminyh Anastasia Kuzminyh 2Arseniya Alexeeva Arseniya Alexeeva 1Anna Emelianova Anna Emelianova 1Aleksey Novoselov Aleksey Novoselov 1Alina Matrosova Alina Matrosova 1Anastasia Slepukhina Anastasia Slepukhina 1Sergey Popov Sergey Popov 1Evgeniya Plaksina Evgeniya Plaksina 1Vasiliy Petrov Vasiliy Petrov 1Anastasia Guselnikova Anastasia Guselnikova 1Anastasia Shagina Anastasia Shagina 1Maria Suntsova Maria Suntsova 1Victoriya Zakharova Victoriya Zakharova 1Zhanna Belaya Zhanna Belaya 1Maria Vorontsova Maria Vorontsova 1Galina Melnichenko Galina Melnichenko 1Natalia Mokrysheva Natalia Mokrysheva 1Vladimir Chekhonin Vladimir Chekhonin 1Ivan Dedov Ivan Dedov 1
  • 1 Endocrinology Research Center, Moscow, Moscow Oblast, Russia
  • 2 Moscow Center for Advanced Studies, Moscow, Moscow Oblast, Russia

The final, formatted version of the article will be published soon.

    Endocrine system disorders form a serious public health burden and can be caused by deleterious genetic variants in single genes or by the combined effects of multiple variants along with environmental and lifestyle factors. EndoGene database presents the results of next-generation sequencing (NGS) assays used to genetically profile 5926 patients diagnosed with 450 endocrine and concomitant diseases, who were examined and treated in The National Medical Research Center for Endocrinology between November 2017 and January 2024. Among them, 494, 1785, 692 and 1941 patients were profiled using four internally developed genetic panels including 220, 250, 376, and 382 genes, respectively, selected based on the literature analysis and clinical recommendations, and 1245 patients were profiled by whole exome sequencing covering 31969 genes. Totally 2711 genetic variants were reported as clinically relevant by medical geneticists which are presented here along with genomic, technical and clinical annotations. This publicly accessible database will be useful to those interested in genetics, epidemiology, population statistics and a better understanding of the molecular basis of endocrine disorders

    Keywords: genetic database, ENDOCRINE PATHOLOGY, mutations, Diabetes Mellitus, Mendelian diseases, human genetic variants

    Received: 30 Jul 2024; Accepted: 23 Jan 2025.

    Copyright: © 2025 Buzdin, Zolotovskaia, Roumiantsev, Emelyanova, Golounina, Pugacheva, Luppov, Kuzminyh, Alexeeva, Emelianova, Novoselov, Matrosova, Slepukhina, Popov, Plaksina, Petrov, Guselnikova, Shagina, Suntsova, Zakharova, Belaya, Vorontsova, Melnichenko, Mokrysheva, Chekhonin and Dedov. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Marianna Arsenovna Zolotovskaia, Endocrinology Research Center, Moscow, Moscow Oblast, Russia

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.