The present study aimed to investigate idiopathic adhesive capsulitis (frozen shoulder), to gain insights on its pathogenesis, diagnosis and therapeutic targets. Using RNA-sequencing (seq), the present study investigated differentially expressed genes (DEGs) in five samples from five idiopathic adhesive capsulitis patients and two samples from two acromioclavicular dislocation patients, without idiopathic adhesive capsulitis. The DEGs were analyzed using the following tools: Gene Ontology enrichment analysis, Kyoto Encyclopedia of Genes and Genomes pathways analysis and protein-protein interaction analysis. A total of 188 DEGs were identified and it was observed that 150 of these were upregulated and 38 were downregulated. It was hypothesized that various nutrient associated proteins may be associated with idiopathic adhesive capsulitis. The Matrix metalloproteinase family of proteins (MMPs), may exhibit a key role in the formation of abnormal collagen cross-links. Overall, the comprehensive and detailed information collected in the present study, regarding idiopathic adhesive capsulitis, may provide a foundation on which in-depth follow-up experiments may be based, aimed at identifying novel strategies for treatment of this disease.

Background Synonymous mutation is the single nucleotide change that does not cause an amino acid change but can affect the rate and efficiency of translation. So recent increase in our knowledge has revealed a substantial contribution of synonymous mutations to human disease risk and other complex traits. Nevertheless, there are still rarely synonymous mutation prediction methods. Methods Nonsynonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association. Here we defined synonymous and missense variation as single nucleotide substitution variation. And then we evaluated the intolerance of genic transcripts to single nucleotide substitution variation based on gnomAD 123136 individuals. After regressing all variations on common variations, we defined residuals of regression model as every genomics region intolerance scores. Results We constructed a total of 24799 nonoverlapped region-based intolerance score by their intolerance to single nucleotide substitution variation (Syntool). The results show that Syntool score can discriminate synonymous disease causing mutations in Human Gene Mutation Database (HGMD Professional) and ClinVar database much better than others. Taken together, this study provides a novel prediction system for synonymous mutations, called Syntool, which could be helpful in identifying candidate synonymous disease causing mutations.