简介:
简介:
简介:
简介:AbstractObjectives:Polycystic ovary syndrome (PCOS) is a common endocrine disease in women of childbearing age. Although it is a leading cause of menstrual disorders, infertility, obesity, and other diseases, its molecular mechanism remains unclear. This study aimed to analyze the target genes, pathways, and potential drugs for PCOS through text mining.Methods:First, three different keywords ( "polycystic ovary syndrome", "obesity/adiposis", and "anovulation" ) were uploaded to GenCLiP3 to obtain three different gene sets. We then chose the common genes among these gene sets. Second, we performed gene ontology and signal pathway enrichment analyses of these common genes, followed by protein-protein interaction (PPI) network analysis. Third, the most significant gene module clustered in the protein-protein network was selected to identify potential drugs for PCOS via gene-drug analysis.Results:A total of 4291 genes related to three different keywords were obtained through text mining, 72 common genes were filtered among the three gene sets, and 69 genes participated in PPI network construction, of which 23 genes were clustered in the gene modules. Finally, six of the 23 genes were targeted by 30 existing drugs.Conclusions:The discovery of the six genes (CYP19A1, ESR1, IGF1R, PGR, PTGS2, and VEGFA) and 30 targeted drugs, which are associated with ovarian steroidogenesis (P <0.001), may be used in potential therapeutic strategies for PCOS.
简介:AbstractBackground:Maturity-onset diabetes of the young (MODY) is the most common monogenic diabetes. The aim of this study was to assess the prevalence of MODY in phenotypic type 2 diabetes (T2DM) among Chinese young adults.Methods:From April 2015 to October 2017, this cross-sectional study involved 2429 consecutive patients from 46 hospitals in China, newly diagnosed between 15 years and 45 years, with T2DM phenotype and negative for standardized glutamic acid decarboxylase antibody at the core laboratory. Sequencing using a custom monogenic diabetes gene panel was performed, and variants of 14 MODY genes were interpreted as per current guidelines.Results:The survey determined 18 patients having genetic variants causing MODY (6 HNF1A, 5 GCK, 3 HNF4A, 2 INS, 1 PDX1, and 1 PAX4). The prevalence of MODY was 0.74% (95% confidence interval [CI]: 0.40-1.08%). The clinical characteristics of MODY patients were not specific, 72.2% (13/18) of them were diagnosed after 35 years, 47.1% (8/17) had metabolic syndrome, and only 38.9% (7/18) had a family history of diabetes. No significant difference in manifestations except for hemoglobin A1c levels was found between MODY and non-MODY patients.Conclusion:The prevalence of MODY in young adults with phenotypic T2DM was 0.74%, among which HNF1A-, GCK-, and HNF4A-MODY were the most common subtypes. Clinical features played a limited role in the recognition of MODY.