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PLoS One. 2017 Sep 28;12(9):e0185355. doi: 10.1371/journal.pone.0185355. eCollection 2017.

Two genetic loci associated with ankle injury.

Author information

1
Dept. Developmental Biology, Stanford University Medical Center, Stanford, CA, United States of America.
2
Dept. Orthopaedic Surgery, Stanford University Medical Center, Stanford, CA, United States of America.
3
Dept. Physical Medicine and Rehabilitation, Harvard Medical School, Boston, MA, United States of America.
4
Kaiser Permanente Northern California, Division of Research, Oakland, CA, United States of America.
5
Dept. of Medicine, Stanford Prevention Research Center, Stanford University School of Medicine, Stanford, CA, United States of America.
6
Dept. of Health Research and Policy, Division of Epidemiology, Stanford University School of Medicine, Stanford, CA, United States of America.
7
Dept. of Statistics, Stanford University School of Humanities and Sciences, Stanford, CA, United States of America.

Abstract

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 genome-wide 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.

PMID:
28957384
PMCID:
PMC5619760
DOI:
10.1371/journal.pone.0185355
[Indexed for MEDLINE]
Free PMC Article

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