Genetic risk factors for an ankle sprain

NewsBot · Oct 3, 2017

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Two genetic loci associated with ankle injury
Stuart K. Kim et al
PLOS ONE | September 28, 2017

Ankle injuries, including sprains, strains and other joint derangements and instability, are
common, especially for athletes involved in indoor court or jumping sports. Identifying
genetic loci associated with these ankle injuries could shed light on their etiologies. A
genome-wide association screen was performed using publicly available data from the
Research Program in Genes, Environment and Health (RPGEH) including 1,694 cases of
ankle injury and 97,646 controls. An indel (chr21:47156779:D) that lies close to a collagen
gene, COL18A1, showed an association with ankle injury at genome-wide significance (p =
3.8x10-8; OR = 1.99; 95% CI = 1.75–2.23). A second DNA variant (rs13286037 on chromosome
9) that lies within an intron of the transcription factor gene NFIB showed an association
that was nearly genome-wide significant (p = 5.1x10-8; OR = 1.63; 95% CI = 1.46–1.80).
The ACTN3 R577X mutation was previously reported to show an association with acute
ankle sprains, but did not show an association in this cohort. This study is the first genomewide
screen for ankle injury that yields insights regarding the genetic etiology of ankle injuries
and provides DNA markers with the potential to inform athletes about their genetic risk
for ankle injury.
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