The COL1A1-1997 C>A polymorphism genetic test examines a specific variation in the COL1A1 gene, which encodes the α1 chain of type I collagen, a fundamental structural protein in connective tissues, bones, and skin. This test identifies a cytosine (C) to adenine (A) substitution at position -1997 in the regulatory region of the gene, which may influence the transcriptional activity of COL1A1 and alter collagen synthesis. Variants in this gene have been associated with differences in bone density, susceptibility to fractures, and connective tissue integrity.
Collagen type I, the primary component of bone matrix and connective tissues, is synthesized as a heterotrimer composed of two α1 chains and one α2 chain. The -1997 C>A polymorphism has been linked to changes in the regulation of COL1A1 expression, potentially shifting the α1/α2 chain ratio and affecting collagen fibril stability. Studies suggest that individuals carrying the A allele may exhibit increased production of α1 chains relative to α2 chains, leading to collagen with altered biomechanical properties. This variation has been correlated with decreased bone mineral density and an elevated risk of osteoporotic fractures, particularly in postmenopausal women. Furthermore, polymorphism has been investigated in relation to other connective tissue disorders, including Ehlers-Danlos syndrome and tendon injuries, where collagen quality and organization play a critical role in tissue strength and function.
Genetic testing for the COL1A1-1997 C>A polymorphism provides insight into the genetic factors contributing to bone health and connective tissue integrity. Identifying this variant may assist in assessing fracture risk and developing personalized strategies for maintaining bone strength through nutritional, lifestyle, and therapeutic interventions. Understanding genetic susceptibility to collagen-related disorders enables early identification of those at higher risk for osteoporosis and other connective tissue abnormalities, facilitating targeted preventive measures.
The COL1A1 1997 C>A polymorphism genetic test is also included in:
