AUTHOR=Mao Xiaojian , Tang Liangliang , Li Hongyi , Zhang Wen , Liu Li , Wang Heyong , Headar Abdalbari 

TITLE=Functional enrichment analysis of mutated genes in children with hyperthyroidism

JOURNAL=Frontiers in Endocrinology

VOLUME=Volume 14 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2023.1213465

DOI=10.3389/fendo.2023.1213465

ISSN=1664-2392

ABSTRACT=Objective: Hyperthyroidism in Chinese children is relatively high and has been increasing in recent years, which has a significant impact on their healthy development. Hyperthyroidism is a polygenic disorder that presents greater challenges in terms of prediction and treatment than monogenic diseases. This study aims to elucidate the associated functions and gene sets of mutated genes in children with hyperthyroidism in terms of the gene ontology through GO enrichment analysis and in terms of biological signaling pathways through KEGG enrichment analysis, thereby enhancing our understanding of the expected effects of multiple mutated genes on hyperthyroidism in children. Methods: Whole-exome sequencing was performed on the DNA samples of children with hyperthyroidism. Screening for pathogenic genes related to hyperthyroidism in affected children was performed using the publicly available disease databases Malacards, MutationView, and Clinvar, and the functions and influences of the identified pathogenic genes were analyzed using statistical analysis and the gene enrichment approach.Results: Through GO enrichment analysis, it was found that the most significant gene ontology enrichment was the function " hormone activity " in terms of gene ontology molecular function.The corresponding mutated genes set that has common effects on hyperthyroidism in children included TG, CALCA, POMC, CGA, PTH, GHRL, FBN1, TRH, PRL, LEP, ADIPOQ, INS, GH1. The second most significant gene ontology enrichment was the function " response to peptide hormone " in terms of biological process. The corresponding mutated genes set that has common effects on hyperthyroidism in children included LRP6,