Biomedical Informatics Center, Indian Council of Medical Research-National Institute for Research in Reproductive Health, Mumbai, 400012, India.
Sci Rep. 2021 Feb 18;11(1):4203. doi: 10.1038/s41598-021-83446-z.
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 ).
性早熟 (PP) 是一种影响全球儿童的重要内分泌疾病。有报道称，多个基因、单核苷酸多态性 (SNP) 和合并症与 PP 相关；然而，这些数据散落在科学文献中，尚未得到系统地整理和分析。在这项研究中，我们提出了 PrecocityDB，这是第一个与 PP 相关的基因及其本体论术语、SNP 和途径相关的手动整理的在线数据库。PrecocityDB 还包含了一个用于可视化与 PP 相关的基因上 SNP 坐标和等位基因变异的工具。PP 相关基因的通路富集分析表明，内分泌和癌症相关通路高度富集。疾病富集分析表明，PP 患者似乎很容易患有生殖和代谢紊乱，如多囊卵巢综合征、性腺功能减退和胰岛素抵抗。PrecocityDB 是识别由于 PP 中共享基因而导致的合并症和疾病风险的有用资源。PrecocityDB 可在 http://www.precocity.bicnirrh.res.in 免费访问。数据库源代码和内容可通过 GitHub（https://github.com/bic-nirrh/precocity）下载。
