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Revista de Osteoporosis y Metabolismo Mineral

On-line version ISSN 2173-2345Print version ISSN 1889-836X

Abstract

REAL, A Del et al. Functional impact of sclerostin gene polymorphisms on DNA methylation and gene expression. Rev Osteoporos Metab Miner [online]. 2019, vol.11, n.4, pp.98-104.  Epub Apr 06, 2020. ISSN 2173-2345.  https://dx.doi.org/10.4321/s1889-836x2019000400004.

Introduction:

Several genome-wide association studies (GWAS) and others which focused on the sclerostin gene (SOST) have found that some SOST polymorphisms are associated with bone mass and risk of fractures. This study analyzes the functional relevance of certain polymorphisms of the SOST promoter region, and their relationship with the expression and methylation of this gene

Material and method:

Alleles of the rs851054, rs851056, rs10534024, rs1234612 polymorphisms and DNA methylation were analyzed by pyrosequencing in serum and bone samples of 33 patients undergoing hip replacement. In addition, SOST expression was studied in bone samples. Also, different alleles of the SOST promoter were cloned into double reporter vectors with the luciferase gene under this promoter and the alkaline phosphatase gene under a constitutive promoter

Results:

Methylation analysis of the SOST promoter region in serum free DNA and bone DNA revealed no statistically significant differences across the alleles of the analyzed polymorphisms (p>0.05). However, transfections with reporter vectors showed high transcriptional activity, regardless of the vector used.

Conclusions:

We have not found a clear association between the different alleles and the DNA methylation of the SOST promoter region. Further studies are needed to determine the polymorphisms' functional effects on the methylation and expression of the SOST gene and the consequences on bone mass.

Keywords : serum free DNA; PMMA; DNA methylation; polymorphisms; sclerostin; osteoporosis; gene regulation.

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