Buzdin Anton A, Zolotovskaia Marianna A, Roumiantsev Sergey A, Emelyanova Aleksandra G, Golounina Olga O, Pugacheva Polina A, Luppov Daniil V, Kuzminyh Anastasia V, Alexeeva Arseniya O, Emelianova Anna A, Novoselov Alexey L, Matrosova Alina, Slepukhina Anastasia A, Popov Sergey V, Plaksina Evgeniya V, Petrov Vasiliy M, Guselnikova Anastasia R, Shagina Anastasia D, Suntsova Maria V, Zakharova Victoriya V, Belaya Zhanna E, Vorontsova Maria V, Melnichenko Galina A, Mokrysheva Natalia G, Chekhonin Vladimir P, Dedov Ivan I
Laboratory of Bioinformatics, Endocrinology Research Center, Moscow, Russia.
Laboratory of Clinical and Genomic Bioinformatics, I.M. Sechenov First Moscow State Medical University, Moscow, Russia.
Front Endocrinol (Lausanne). 2025 Feb 18;16:1472754. doi: 10.3389/fendo.2025.1472754. eCollection 2025.
Endocrine system disorders are 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.
The EndoGene database presents the results of next-generation sequencing assays used to genetically profile 5,926 patients who were diagnosed with 450 endocrine and concomitant diseases and were examined and treated at the National Medical Research Center for Endocrinology between November 2017 and January 2024. Among them, 494, 1,785, 692, and 1,941 patients were profiled using four internally developed genetic panels including 220, 250, 376, and 382 genes, respectively, selected based on a literature analysis and clinical recommendations, and 1,245 patients were profiled by whole exome sequencing covering 31,969 genes.
2,711 genetic variants were reported as clinically relevant by medical geneticists and 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.
内分泌系统疾病是一项严重的公共卫生负担，可能由单基因中的有害基因变异引起，也可能由多种变异与环境和生活方式因素的综合作用导致。
EndoGene数据库展示了下一代测序分析的结果，这些分析用于对5926名患者进行基因分型，这些患者被诊断患有450种内分泌及相关疾病，并于2017年11月至2024年1月期间在内分泌国家医学研究中心接受检查和治疗。其中，分别使用四个内部开发的基因panel对494、1785、692和1941名患者进行了基因分型，这些panel分别包含220、250、376和382个基因，是根据文献分析和临床建议选择的，还有1245名患者通过覆盖31969个基因的全外显子组测序进行了基因分型。
医学遗传学家报告了2711个具有临床相关性的基因变异，并在此展示了这些变异以及基因组、技术和临床注释。
这个可公开访问的数据库将对那些对遗传学、流行病学、人群统计学以及更好地理解内分泌疾病分子基础感兴趣的人有用。
