内基因数据库：5926名被诊断患有内分泌疾病的俄罗斯患者的已报告基因变异情况。

EndoGene database: reported genetic variants for 5,926 Russian patients diagnosed with endocrine disorders.

作者信息

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

机构信息

Laboratory of Bioinformatics, Endocrinology Research Center, Moscow, Russia.

Laboratory of Clinical and Genomic Bioinformatics, I.M. Sechenov First Moscow State Medical University, Moscow, Russia.

出版信息

Front Endocrinol (Lausanne). 2025 Feb 18;16:1472754. doi: 10.3389/fendo.2025.1472754. eCollection 2025.

DOI:10.3389/fendo.2025.1472754

PMID:40041282

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11876052/

Abstract

INTRODUCTION

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.

METHODS

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.

RESULTS

2,711 genetic variants were reported as clinically relevant by medical geneticists and are presented here along with genomic, technical, and clinical annotations.

DISCUSSION

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.

摘要

引言

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。

方法

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。