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Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

Precocious puberty (PP) is an important endocrine disorder affecting children globally. Several genes, SNPs and comorbidities are reported to be associated with PP; however, this data is scattered across scientific literature and has not been systematically collated and analysed. In this study, we p...

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Autores principales: Sharma, Mridula, Kundu, Indra, Barai, Ram Shankar, Bhaye, Sameeksha, Desai, Karishma, Pokar, Khushal, Idicula-Thomas, Susan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7893021/
https://www.ncbi.nlm.nih.gov/pubmed/33602974
http://dx.doi.org/10.1038/s41598-021-83446-z
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author Sharma, Mridula
Kundu, Indra
Barai, Ram Shankar
Bhaye, Sameeksha
Desai, Karishma
Pokar, Khushal
Idicula-Thomas, Susan
author_facet Sharma, Mridula
Kundu, Indra
Barai, Ram Shankar
Bhaye, Sameeksha
Desai, Karishma
Pokar, Khushal
Idicula-Thomas, Susan
author_sort Sharma, Mridula
collection PubMed
description Precocious puberty (PP) is an important endocrine disorder affecting children globally. Several genes, SNPs and comorbidities are reported to be associated with PP; however, this data is scattered across scientific literature and has not been systematically collated and analysed. In this study, we present PrecocityDB as the first manually curated online database on genes and their ontology terms, SNPs, and pathways associated with PP. A tool for visualizing SNP coordinates and allelic variation on each chromosome, for genes associated with PP is also incorporated in PrecocityDB. Pathway enrichment analysis of PP-associated genes revealed that endocrine and cancer-related pathways are highly enriched. Disease enrichment analysis indicated that individuals with PP seem to be highly likely to suffer from reproductive and metabolic disorders such as PCOS, hypogonadism, and insulin resistance. PrecocityDB is a useful resource for identification of comorbid conditions and disease risks due to shared genes in PP. PrecocityDB is freely accessible at http://www.precocity.bicnirrh.res.in. The database source code and content can be downloaded through GitHub (https://github.com/bic-nirrh/precocity).
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spelling pubmed-78930212021-02-23 Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB Sharma, Mridula Kundu, Indra Barai, Ram Shankar Bhaye, Sameeksha Desai, Karishma Pokar, Khushal Idicula-Thomas, Susan Sci Rep Article Precocious puberty (PP) is an important endocrine disorder affecting children globally. Several genes, SNPs and comorbidities are reported to be associated with PP; however, this data is scattered across scientific literature and has not been systematically collated and analysed. In this study, we present PrecocityDB as the first manually curated online database on genes and their ontology terms, SNPs, and pathways associated with PP. A tool for visualizing SNP coordinates and allelic variation on each chromosome, for genes associated with PP is also incorporated in PrecocityDB. Pathway enrichment analysis of PP-associated genes revealed that endocrine and cancer-related pathways are highly enriched. Disease enrichment analysis indicated that individuals with PP seem to be highly likely to suffer from reproductive and metabolic disorders such as PCOS, hypogonadism, and insulin resistance. PrecocityDB is a useful resource for identification of comorbid conditions and disease risks due to shared genes in PP. PrecocityDB is freely accessible at http://www.precocity.bicnirrh.res.in. The database source code and content can be downloaded through GitHub (https://github.com/bic-nirrh/precocity). Nature Publishing Group UK 2021-02-18 /pmc/articles/PMC7893021/ /pubmed/33602974 http://dx.doi.org/10.1038/s41598-021-83446-z Text en © The Author(s) 2021 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Sharma, Mridula
Kundu, Indra
Barai, Ram Shankar
Bhaye, Sameeksha
Desai, Karishma
Pokar, Khushal
Idicula-Thomas, Susan
Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB
title Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB
title_full Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB
title_fullStr Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB
title_full_unstemmed Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB
title_short Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB
title_sort enrichment analyses of diseases and pathways associated with precocious puberty using precocitydb
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7893021/
https://www.ncbi.nlm.nih.gov/pubmed/33602974
http://dx.doi.org/10.1038/s41598-021-83446-z
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