Three single nucleotide polymorphisms in transforming growth factor β-1, rs1800470; thrombospondin, type 1, domain-containing 7A, rs12673692; and formiminotransferase N-terminal subdomain-containing gene, rs7605378, showed a significant association with vertebral fracture prevalence, whereas five (α-l-iduronidase, rs3755955; C7orf58, rs190543052; homeobox C4, rs75256744; G patch domain-containing gene 1, rs2287679; and Werner syndrome, rs2230009) were significantly associated with femoral fracture.
These results together with the fact that TGFbeta-1 up-regulates the expression of ECM proteins strongly suggest that TGFbeta-1 has a key role in accelerated cellular senescence of fibroblasts of WS patients.