The potential to use genetic testing to reduce sports injuries is rapidly increasing. The
COL1A1 gene, for example, encodes the alpha chain of type I collagen, the major protein component of all tendons and ligaments.
9,10 There is a DNA single-nucleotide polymorphism (SNP), rs1800012, in the upstream region of this gene that affects its level of expression. The majority of people carry a G nucleotide at this polymorphic position, and approximately 20% carry a T nucleotide.
11 The T allele leads to increased expression of type I collagen alpha polypeptides compared with the G nucleotide, which may increase the tensile strength of tendons and ligaments.
12–14 About 4% of athletes carry 2 copies of the T allele.
11,14 These TT athletes show significantly decreased risk for anterior cruciate ligament (ACL) rupture and Achilles tendinopathy.
14–16 Besides this polymorphism in
COL1A1, there are additional DNA variants associated not only with ACL rupture and Achilles tendinopathy but also with other athletic injuries (eg, shoulder dislocations and muscle strain severity).
14,17–21 There are separate studies concerning genetic polymorphisms associated with athletic performance, such as muscle contractility and V[Combining Dot Above]O2max.
22,23
