Functional enrichment analysis of mutated genes in children with hyperthyroidism
ObjectiveHyperthyroidism 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....
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-10-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2023.1213465/full |
| _version_ | 1797663264839041024 |
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| author | Xiaojian Mao Liangliang Tang Hongyi Li Wen Zhang Li Liu Heyong Wang Abdalbari Headar |
| author_facet | Xiaojian Mao Liangliang Tang Hongyi Li Wen Zhang Li Liu Heyong Wang Abdalbari Headar |
| author_sort | Xiaojian Mao |
| collection | DOAJ |
| description | ObjectiveHyperthyroidism 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.MethodsWhole-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.ResultsThrough 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, TSC2, KANK1, COL1A1, CDKN1B, POMC, STAT1, MEN1, APC, GHRL, TSHR, GJB2, FBN1, GPT, LEP, ADIPOQ, INS, GH1. Through KEGG enrichment analysis, it was found that the most significant biological signaling pathway enrichment was the pathway “Thyroid hormone signaling pathway” function. The corresponding mutated genes set that has common effects on hyperthyroidism in children included NOTCH3, MYH7, TSC2, STAT1, MED13L, MAP2K2, SLCO1C1, SLC16A2, and THRB. The second most significant biological signaling pathway enrichment was the pathway “Hypertrophic cardiomyopathy” in terms of biological process. The corresponding mutated genes set that has common effects on hyperthyroidism in children included IGF1, CACNA1S, MYH7, IL6, TTN, CACNB2, LAMA2, and DMD.ConclusionThe mutated genes in children with hyperthyroidism were closely linked to function involved in “hormone activity” and “response to peptide hormone” in terms of the biological signaling pathway, and to the functional pathways involved in “Thyroid hormone signaling pathway” and “Hypertrophic cardiomyopathy” in terms of the biological signaling pathway. |
| first_indexed | 2024-03-11T19:12:02Z |
| format | Article |
| id | doaj.art-594f271793e3456a9161ae2d303cc6bd |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-03-11T19:12:02Z |
| publishDate | 2023-10-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Endocrinology |
| spelling | doaj.art-594f271793e3456a9161ae2d303cc6bd2023-10-09T11:18:29ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922023-10-011410.3389/fendo.2023.12134651213465Functional enrichment analysis of mutated genes in children with hyperthyroidismXiaojian Mao0Liangliang Tang1Hongyi Li2Wen Zhang3Li Liu4Heyong Wang5Abdalbari Headar6Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, ChinaCenter of Big Data and Business Itelligent, South China University of Technology, Guangzhou, ChinaDepartment of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, ChinaDepartment of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, ChinaDepartment of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, ChinaCenter of Big Data and Business Itelligent, South China University of Technology, Guangzhou, ChinaCenter of Big Data and Business Itelligent, South China University of Technology, Guangzhou, ChinaObjectiveHyperthyroidism 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.MethodsWhole-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.ResultsThrough 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, TSC2, KANK1, COL1A1, CDKN1B, POMC, STAT1, MEN1, APC, GHRL, TSHR, GJB2, FBN1, GPT, LEP, ADIPOQ, INS, GH1. Through KEGG enrichment analysis, it was found that the most significant biological signaling pathway enrichment was the pathway “Thyroid hormone signaling pathway” function. The corresponding mutated genes set that has common effects on hyperthyroidism in children included NOTCH3, MYH7, TSC2, STAT1, MED13L, MAP2K2, SLCO1C1, SLC16A2, and THRB. The second most significant biological signaling pathway enrichment was the pathway “Hypertrophic cardiomyopathy” in terms of biological process. The corresponding mutated genes set that has common effects on hyperthyroidism in children included IGF1, CACNA1S, MYH7, IL6, TTN, CACNB2, LAMA2, and DMD.ConclusionThe mutated genes in children with hyperthyroidism were closely linked to function involved in “hormone activity” and “response to peptide hormone” in terms of the biological signaling pathway, and to the functional pathways involved in “Thyroid hormone signaling pathway” and “Hypertrophic cardiomyopathy” in terms of the biological signaling pathway.https://www.frontiersin.org/articles/10.3389/fendo.2023.1213465/fullhyperthyroidismbioinformaticsgene mutationenrichment analysisgene ontology enrichment |
| spellingShingle | Xiaojian Mao Liangliang Tang Hongyi Li Wen Zhang Li Liu Heyong Wang Abdalbari Headar Functional enrichment analysis of mutated genes in children with hyperthyroidism Frontiers in Endocrinology hyperthyroidism bioinformatics gene mutation enrichment analysis gene ontology enrichment |
| title | Functional enrichment analysis of mutated genes in children with hyperthyroidism |
| title_full | Functional enrichment analysis of mutated genes in children with hyperthyroidism |
| title_fullStr | Functional enrichment analysis of mutated genes in children with hyperthyroidism |
| title_full_unstemmed | Functional enrichment analysis of mutated genes in children with hyperthyroidism |
| title_short | Functional enrichment analysis of mutated genes in children with hyperthyroidism |
| title_sort | functional enrichment analysis of mutated genes in children with hyperthyroidism |
| topic | hyperthyroidism bioinformatics gene mutation enrichment analysis gene ontology enrichment |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2023.1213465/full |
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