[Connective tissue dysplasia, magnesium, and nucleotide polymorphisms].
Undifferentiated connective tissue dysplasia (UCTD) is one of most common diseases of the connective tissue. High frequency of UCTD in population along with the fact that it can provoke a number of other diseases make UCTD an important object of the modern biomedical research in the areas of cardiology, neurology, rheumatology and pulmonology. Modern diagnostics and determination of the predisposition to UCTD allow elaboration of personalized therapy. In particular, Mg-containing supplements and medications can be effectively used in the therapy of UCTD. In one of our previous works we have analyzed possible molecular mechanisms of UCTD etiology as well as therapeutic action of magnesium. The use of data on nucleotide polymorphisms as complementation of standard medical diagnostics is one of perspective trends of the post-genomic medical research. The present work suggest a number of nucleotide polymorphisms that can be used in genetic association analyses of the UCTD as of well as therapeutic efficiency of magnesium treatment. Selection and analysis of the polymorphisms was done on the base of molecular mechanisms we had proposed earlier, comprehensive analysis of published data and also with the use of an integral approach to analysis of the functional effects of the nucleotide polymorphisms and corresponding amino acid substitutions.
Torshin
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Gromova
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D000483:Alleles; D003240:Connective Tissue Diseases / Q000235:genetics* / Q000473:pathology* / Q000517:prevention & control; D015870:Gene Expression / Q000235:genetics*; D016678:Genome; D015235:HLA-B Antigens / Q000235:genetics; D006801:Humans; D008277:Magnesium Oxide / Q000627:therapeutic use; D020778:Matrix Metalloproteinase 2 / Q000235:genetics; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044169:Receptors, Calcium-Sensing / Q000235:genetics; D050053:TRPM Cation Channels / Q000235:genetics
C095550:CASR protein, human; D015235:HLA-B Antigens; D044169:Receptors, Calcium-Sensing; D050053:TRPM Cation Channels; C459082:TRPM6 protein, human; D008277:Magnesium Oxide; C522361:MMP2 protein, human; D020778:Matrix Metalloproteinase 2