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Journal of Bioanalysis & Biomedicine

Journal of Bioanalysis & Biomedicine

ISSN: 1948-593X

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Paget's disease is a metabolic bone disorder characterized by focal increases in bone turnover, marked by excessive osteoclastic bone resorption and increased bone formation. Despite an increased mass, the bone produced is structurally disorganized and mechanically weak and can lead to bone pain, arthritis, bone deformation and fracture.

Paget's disease of the bone (PDB) is characterized by focal abnormalities in bone turnover, with increased osteoclastic resorption, the main characteristic of the disease. Genetic factors have been shown to play an important role in PDB, and genome-wide association studies (GWAS) have identified 7 genetic loci associated with PDB at the genome level. Studies of the quantitative expression trait locus (eQTL) using cell types that are directly relevant to the disease of interest are increasingly used to identify putative effector genes for GWAS loci. We recently built a unique osteoclast-specific eQTL resource using differentiated cells in vitro from 158 subjects to study the genetics of bone disease. Given the major role of osteoclasts in PDB, we used this resource to study the potential effects of genetic regulation of the 7 significant loci at the genome level of PDB on genes located less than 500 kb from each locus. . After correction for several tests, we observed statistically significant associations for rs4294134 with the expression of the STMP1 gene and rs2458413 with the expression of the DPYS and DCSTAMP genes. The eQTL associations observed for rs4294134 with STMP1 and rs2458413 with DCSTAMP were confirmed by eQTL data from other tissue types. The product of the STMP1 gene has not been widely studied, but the DCSTAMP gene has an established role in the differentiation of osteoclasts and the associations observed between rs2458413 and PDB are probably mediated by regulatory effects on this genes.

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Citations: 3099

Journal of Bioanalysis & Biomedicine received 3099 citations as per Google Scholar report

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