Int J Sports Med 2017; 38(07): 501-507
DOI: 10.1055/s-0043-104853
Genetics & Molecular Biology
© Georg Thieme Verlag KG Stuttgart · New York

Two Genetic Loci associated with Medial Collateral Ligament Injury

Andrew K. Roos
1   Dev. Bio., Stanford University, Stanford, United States
,
Andy L. Avins
2   Division of Research, Kaiser Permanente Northern California, Oakland, United States
,
Marwa A. Ahmed
3   Orthopedic Surgery, Stanford University, Stanford, United States
,
John P. Kleimeyer
4   Department Orthopaedic Surgery, Stanford University, Stanford, United States
,
Thomas R. Roos
1   Dev. Bio., Stanford University, Stanford, United States
,
Michael Fredericson
4   Department Orthopaedic Surgery, Stanford University, Stanford, United States
,
John P.A. Ioannidis
5   Department of Medicine, Stanford University, Stanford, United States
,
Jason L. Dragoo
4   Department Orthopaedic Surgery, Stanford University, Stanford, United States
,
Stuart Kim
1   Dev. Bio., Stanford University, Stanford, United States
› Author Affiliations
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Publication History



accepted after revision 13 February 2017

Publication Date:
08 May 2017 (online)

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Abstract

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. A genome-wide association screen was performed using data from the Research Program in Genes, Environment and Health (RPGEH) including 1 572 cases of MCL injury and 100 931 controls. 2 SNPs (rs80351309 and rs6083471) showed an association with MCL injury at genome-wide significance (p<5×10−8) 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. The SNPs rs80351309 and rs6083471 show a statistically significant association with MCL injury. It will be important to replicate this finding in future studies.

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