Altered expression of proteoglycan, collagen and growth factor genes in a TGF-β1 stimulated genetic risk model for musculoskeletal soft tissue injuries.

Objectives: To investigate the functional effect of implicated variants within BGN and COL5A1 on gene expression of components of the extracellular matrix (ECM) in a TGF-β-stimulated risk model for musculoskeletal soft tissue injuries.

Design: Experimental research, laboratory study.

Methods: Skin biopsies were obtained from nine healthy participants with either a combined increased or reduced risk profile for COL5A1 rs12722 C>T and BGN rs1126499 C>T - rs1042103 G>A, and primary fibroblast cell lines were established.