
Osteoporosis is a complex age‐related disease clinically diagnosed with bone mineral density (BMD). This study validated long‐range regulation via a chromosome conformation capture (3C) assay. Furthermore, the study demonstrated that SNP rs1440702 with a risk allele (rs1440702‐A) could increase the activity of the enhancer element by altering the binding affinity of the transcription factor TCF4 resulting in the upregulation expression of the SOX6 gene. Collectively, our integrated analyses revealed how the noncoding genetic variants (rs1440702) affect osteoporosis predisposition via long‐range gene regulatory mechanisms and identified its target gene SOX6 for downstream biomarker and drug development. © 2022 American Society for Bone and Mineral Research (ASBMR).
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