Influence of SMAD1 gene in osteoporosis: A bioinformatics approach

摘要

Abstract: In the present study we have analyzed the role of SMAD family member 1 protein (SMAD1) gene products in relation to bone morphogenesis and osteoporosis. Out of 1045 single nucleotide polymorphisms (SNP) investigated, we find that one nonsynonymous SNP (nsSNP), rs1804647, to have significant damaging effects as predicted by all the tools used in the analysis. This nsSNP resulted in a change of amino acid from a positive charged residue, Lysine, to a strong negatively charged residue, Glutamate, and hence the change of residue with opposite charges might lead to structural defects and result in altered function. The results presented in this report will be a good starting point for genetic analysis of SMAD1 genes in patients with osteoporosis which might lead to more conclusive evidence of the association of this gene with osteoporosis.