# Transcriptomic analysis of human cartilage identified potential therapeutic targets for hip osteoarthritis

**Authors:** Jingyi Huang, Ming Liu, Andrew Furey, Proton Rahman, Guangju Zhai

PMC · DOI: 10.1093/hmg/ddae200 · Human Molecular Genetics · 2025-01-08

## TL;DR

This study identifies genes linked to hip osteoarthritis, offering potential targets for new treatments.

## Contribution

The study discovers and validates eight hub genes associated with hip OA, including a promising therapeutic target SDC1.

## Key findings

- Eight hub genes (ASPN, COL1A2, MXRA5, P3H1, PCOLCE, SDC1, SPARC, TLR2) are associated with hip OA.
- Dysregulation of extracellular matrix formation and collagen chain imbalance contribute to hip OA development.
- SDC1 is identified as a promising potential therapeutic target for hip OA.

## Abstract

Cartilage degradation is the hallmark of osteoarthritis (OA). The purpose of this study was to identify and validate differentially expressed genes (DEGs) in human articular cartilage that could serve as potential therapeutic targets for hip OA. We performed transcriptomic profiling in a discovery cohort (12 OA-free and 72 hip OA-affected cartilage) and identified 179 DEGs between OA-free and OA-affected cartilage after correcting for multiple testing (P < 2.97 × 10−6). Pathway and network analyses found eight hub genes to be associated with hip OA (ASPN, COL1A2, MXRA5, P3H1, PCOLCE, SDC1, SPARC, and TLR2), which were all confirmed using qPCR in a validation cohort (36 OA-free and 62 hip OA-affected cartilage) (P < 6.25 × 10−3). Our data showed that dysregulation of extracellular matrix formation and imbalance in the proportion of collagen chains may contribute to the development of hip OA, and SDC1 could be a promising potential therapeutic target. These findings provided a better understanding of the molecular mechanisms for hip OA and may assist in developing targeted treatment strategies.

## Linked entities

- **Genes:** ASPN (asporin) [NCBI Gene 54829], COL1A2 (collagen type I alpha 2 chain) [NCBI Gene 1278], MXRA5 (matrix remodeling associated 5) [NCBI Gene 25878], P3H1 (prolyl 3-hydroxylase 1) [NCBI Gene 64175], PCOLCE (procollagen C-endopeptidase enhancer) [NCBI Gene 5118], SDC1 (syndecan 1) [NCBI Gene 6382], SPARC (secreted protein acidic and cysteine rich) [NCBI Gene 6678], TLR2 (toll like receptor 2) [NCBI Gene 7097]
- **Diseases:** hip osteoarthritis (MONDO:0006629), osteoarthritis (MONDO:0005178)

## Full-text entities

- **Genes:** P3H1 (prolyl 3-hydroxylase 1) [NCBI Gene 64175] {aka GROS1, LEPRE1, OI8}, SPARC (secreted protein acidic and cysteine rich) [NCBI Gene 6678] {aka BM-40, OI17, ON, ONT}, ASPN (asporin) [NCBI Gene 54829] {aka OS3, PLAP-1, PLAP1, SLRR1C}, SDC1 (syndecan 1) [NCBI Gene 6382] {aka CD138, SDC, SYND1, syndecan}, COL1A2 (collagen type I alpha 2 chain) [NCBI Gene 1278] {aka EDSARTH2, EDSCV, OI4}, TLR2 (toll like receptor 2) [NCBI Gene 7097] {aka CD282, TIL4}, PCOLCE (procollagen C-endopeptidase enhancer) [NCBI Gene 5118] {aka PCPE, PCPE-1, PCPE1}, MXRA5 (matrix remodeling associated 5) [NCBI Gene 25878]
- **Diseases:** hip OA (MESH:D015207), OA (MESH:D010003)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11834983/full.md

## References

59 references — full list in the complete paper: https://tomesphere.com/paper/PMC11834983/full.md

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Source: https://tomesphere.com/paper/PMC11834983