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Identification of causal genes about osteoporosis associated with risk loci using DLO Hi-C [Hi-C]

ABSTRACT: In this project, we use a simple digestion-ligation-only Hi-C (DLO Hi-C) technology, for whole-genome chromosome conformation capture, analysis of genes expression changes and transcriptional regulatory elements involved in BMMSC differentiation. Rely on GWAS data and eQTL analysis, our findings confirmed some previously reported genes that have an effect on OP, such as TIMP-2, MMP-2 and DAAM2, TMEM241 was less reported. Furthermore, our work provide a theoretical basis for the development of OP.

ORGANISM(S): Homo sapiens

PROVIDER: GSE160394 | GEO | 2023/02/08

REPOSITORIES: GEO

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Identification of causal genes about osteoporosis associated with risk loci using DLO Hi-C [ATAC-Seq]

Project description:In this project, we use a simple digestion-ligation-only Hi-C (DLO Hi-C) technology, for whole-genome chromosome conformation capture, analysis of genes expression changes and transcriptional regulatory elements involved in BMMSC differentiation. Rely on GWAS data and eQTL analysis, our findings confirmed some previously reported genes that have an effect on OP, such as TIMP-2, MMP-2 and DAAM2, TMEM241 was less reported. Furthermore, our work provide a theoretical basis for the development of OP.

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| S-EPMC7140825 | biostudies-literature

Identification of causal genes about osteoporosis associated with risk loci using DLO Hi-C

Project description:This SuperSeries is composed of the SubSeries listed below.

2023-02-08 | GSE160396 | GEO

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Project description:The global incidence of frozen shoulder (FS) and osteoporosis (OP) is high. Although FS patients may experience localized OP in the shoulder, there is still insufficient strong evidence to confirm the relationship between FS and OP. The main objective of this current research is to investigate the pathogenesis mechanism of FS and explore the connection between FS and OP.We obtained FS and OP datasets from GEO and identified crosstalk genes. We screened the p38 MAPK signaling pathway and its specific inhibitor, TAK715. We conducted flow cytometry, western blot, and PCR analyses to assess the treatment effect of TAK715 on FS synovium fibroblasts at concentrations of 1μM, 5μM, and 10μM. Additionally, we employed SD rats to validate the treatment effects of TAK715 in vivo. TAK715 was found to also intervene in the activation of osteoclasts. We successfully established a FS and OP rat model, with the FS with OP rat displaying more severe symptoms. Results demonstrated that TAK715 effectively corrected both fibrosis and osteoporosis simultaneously in vivo.The frozen shoulder with osteoporosis may exhibit more severe symptoms, and TAK715 is effective in protecting fibrosis and osteoporosis both in vitro and vivo. The therapy to correct FS and OP simultaneously by TAK715 provides novel approach in FS treatment and study.

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