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Two genetic loci associated with ankle injury
Stuart K Kim1, John P Kleimeyer2, Marwa A Ahmed3
1Dept. Developmental Biology, Stanford University Medical Center, Stanford, CA, United States of America.
Plos One
|September 29, 2017
Summary
This study identified genetic markers associated with ankle injuries in athletes. These findings offer insights into injury causes and potential genetic risk factors for athletes.
Area of Science:
- Genetics
- Sports Medicine
- Orthopedics
Background:
- Ankle injuries are prevalent, particularly in athletes participating in sports requiring jumping or court activities.
- Understanding the genetic basis of ankle injuries can elucidate their underlying etiologies.
- Previous research has explored genetic associations, but a comprehensive genome-wide screen for ankle injury was lacking.
Purpose of the Study:
- To conduct a genome-wide association screen to identify genetic loci linked to ankle injuries.
- To investigate potential genetic predispositions for ankle injuries in athletes.
- To discover DNA markers that could inform individuals about their genetic risk for ankle injury.
Main Methods:
- Utilized publicly available data from the Research Program in Genes, Environment and Health (RPGEH).
- Analyzed data from 1,694 cases of ankle injury and 97,646 controls.
- Performed a genome-wide association screen to identify significant genetic variants.
Main Results:
- A significant association was found between an indel near the COL18A1 gene and ankle injury (p = 3.8x10-8).
- A DNA variant within the NFIB gene (rs13286037) showed a nearly genome-wide significant association with ankle injury (p = 5.1x10-8).
- The ACTN3 R577X mutation, previously linked to ankle sprains, did not show an association in this cohort.
Conclusions:
- This study is the first genome-wide screen to identify genetic associations with ankle injury.
- Identified novel DNA markers near COL18A1 and within NFIB potentially linked to ankle injury etiology.
- These genetic markers may help in assessing an athlete's predisposition to ankle injuries.
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