Why SNP rs227584 is associated with human BMD and fracture risk? A molecular and cellular study in bone cells.

ABSTRACT: A large number of SNPs significant for osteoporosis (OP) had been identified by genome-wide association studies. However, the underlying association mechanisms were largely unknown. From the perspective of protein phosphorylation, gene expression regulation, and bone cell activity, this study aims to illustrate association mechanisms for representative SNPs of interest. We utilized public databases and bioinformatics tool to identify OP-associated SNPs which potentially influence protein phosphorylation (phosSNPs). Associations with hip/spine BMD, as well as fracture risk, in human populations for one significant phosSNP, that is, rs227584 (major/minor allele: C/A, EAS population) located in C17orf53 gene, were suggested in prior meta-analyses. Specifically, carriers of allele C had signif

SUBMITTER: Zhou X 

PROVIDER: S-EPMC6349212 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature