Two Genetic Loci Associated with Medial Collateral Ligament Injury

Andrew K. Roos, Andrew L. Avins, Marwa A. Ahmed, John P. Kleimeyer, Thomas R. Roos, Michael Fredericson, John P. A. Ioannidis, Jason L. Dragoo, Stuart K. Kim

Int J Sports Med. 2017 Jul;38(7):501-507. doi: 10.1055/s-0043-104853. [PDF]


Background.  Medial collateral ligament (MCL) injuries are a common knee injury, especially in competitive athletes. Identifying genetic loci associated with MCL injury could shed light on its etiology.

Aim. To identify DNA polymorphisms associated with MCL injury.

Methods. A genome-wide association screen was performed using publically available data from the Research Program in Genes, Environment and Health (RPGEH) including 1,572 cases of MCL injury and 100,931 controls.

Results. Two SNPs (rs80351309 and rs6083471) showed an association with MCL injury at genome-wide significance (p < 5 x10-8) with moderate effects (Odds Ratios = 2.12 and 1.57, respectively). For rs80351309, the genotypes were imputed with only moderate accuracy, so this SNP should be viewed with caution until its association with MCL injury can be validated.

Conclusions. rs80351309 and rs6083471 show a statistically significant association with MCL injury. It will be important to replicate this finding in future studies.