Evidence map›Paper›PMID 41219646›Full record

ArticleDiscover oncology2025

Molecular mechanisms and genetic predisposition to osteoarthritis and osteosarcoma through Mendelian inheritance patterns.

Hao Fei, Wen Huang, Yueyuan Chen, Shuo Yang

Abstract read
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Article in Discover oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Hao Fei *Department of Orthopaedic Surgery, Nantong First People's Hospital, Affiliated Hospital 2 of Nantong University, No 666, Shengli Road, Nantong, 226000, Jiangsu, China.
Wen Huang *Department of Pathology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Xuhui District, Shanghai, 200032, China.
Yueyuan ChenDepartment of Oncology, Second People's Hospital Nantong, No. 298, Xinhua Road, Nantong, 226000, Jiangsu, China. chenyueyuan1377@163.com.
Shuo YangDepartment of Orthopaedic Surgery, Nantong First People's Hospital, Affiliated Hospital 2 of Nantong University, No 666, Shengli Road, Nantong, 226000, Jiangsu, China. 17386409300@163.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundOsteoarthritis and osteosarcoma are important orthopedic diseases whose genetic susceptibility and molecular mechanisms require further investigation. This study aims to systematically analyze the genetic variation characteristics and cellular molecular networks of these two diseases through Mendelian genetic approaches.

methodsGenome-wide association study (GWAS) was employed to identify genetic susceptibility loci for osteoarthritis, and protein-protein interaction networks were constructed to analyze key gene functions. Single-cell RNA sequencing was performed on osteosarcoma tissues, with t-SNE dimensionality reduction analysis to identify cell subpopulations and intercellular communication network analysis.

resultsOsteoarthritis GWAS analysis revealed multiple significant peaks across 22 chromosomes, identifying genetic variant loci associated with disease susceptibility. Protein-protein interaction networks revealed functional associations among key regulatory genes including TP53, PIK3R3, AKT1, and BRCA1. Single-cell analysis of osteosarcoma successfully identified 11 cell types, including osteoblasts, chondrocytes, osteoclasts, macrophages, T cells, and B cells. Mitochondrial ribosomal protein genes of the MRPL family showed coordinated high expression in specific cell subsets, suggesting the important role of mitochondrial function in tumorigenesis. Intercellular communication analysis revealed that NK cells and B cells play central regulatory roles in the tumor immune microenvironment.

conclusionThis study systematically elucidated the genetic susceptibility mechanisms of osteoarthritis and cellular heterogeneity characteristics of osteosarcoma based on Mendelian genetic principles. The findings provide important insights into understanding the genetic basis and molecular mechanisms of orthopedic diseases, laying a theoretical foundation for precision medicine and targeted therapeutic strategy development.

Indexed as

Genome-wide association studyMendelian geneticsOsteoarthritisOsteosarcomaSingle-cell transcriptomics.

Identifiers

PMID41219646
PMCPMC12605929

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