The Transforming Growth Factor β Genes and Susceptibility to Musculoskeletal Injuries in a Physically Active Caucasian Cohort

<b>Background/Objectives</b>: Changes in the physiological activity of transforming growth factor-beta (TGF-β) family caused by genetic variability may significantly affect the phenotype of the musculoskeletal system and, consequently, the risk of sports injuries. This study aimed to investigate whether the <i>TGFBI</i> (rs1442), <i>TGFBR3</i> (rs1805113 and rs1805117), and <i>MSTN</i> (rs11333758) polymorphisms, either individually or in combination, were associated with susceptibility to muscle injury, anterior cruciate ligament (ACL) rupture, and other injuries. <b>Methods</b>: The study group included 202 physically active Caucasians with reported sport injuries and 133 healthy controls. All the samples were genotyped using real-time polymerase chain reaction (real-time PCR). <b>Results</b>: The results revealed that (1) the <i>TGFBR3</i> rs1805117 TC genotype was nominally associated with increased ACL injury risk; (2) the <i>MSTN</i> rs11333758 heterozygotes was more frequent in the one injury group (vs controls) and in the ACL group, whereas in the multiple vs. one comparison the over-dominant model suggested lower odds for heterozygotes; and (3) the <i>TGFBI</i> rs1442 CG genotype was nominally associated with lower odds of fractures, dislocations or sprains. In addition, simultaneous analysis of chosen SNPs revealed interactions between <i>TGFBR3</i> rs1805117 and rs1805113, with a nominal association of the rs1805113 G allele with increased injury risk, as did rs11333758 and rs1805113, with a potential effect of rs11333758 on injury status. However, haplotype analysis of the <i>TGFBR3</i> SNPs revealed no significant associations. After Bonferroni correction, none of the associations remained statistically significant. <b>Conclusions</b>: The results suggested that carrying specific <i>TGFBI</i>, <i>TGFBR3</i>, and <i>MSTN</i> genotypes may be potentially associated with susceptibility to musculoskeletal injuries in a physically active Caucasians.