Key result
The rs71404070 single nucleotide polymorphism showed a genome-wide significant association with rotator cuff injury, increasing the risk by 25% per allele (OR 1.25).
Case-Control (n=102,979)
Odds Ratio: 1.25 (95% CI 1.18–1.33)
p-value: p=2.31x10-8
A genome-wide association study identified rs71404070 as a novel locus significantly associated with increased risk of rotator cuff injury, while failing to validate previously reported genetic associations.
Highlights a novel genetic locus for rotator cuff injury; hypothesis-generating and requires replication before clinical translation.
Rotator cuff tears are common, especially in the fifth and sixth decades of life, but can also occur in the competitive athlete. Genetic differences may contribute to overall injury risk. Identifying genetic loci associated with rotator cuff injury could shed light on the etiology of this injury. We performed a genome-wide association screen using publically available data from the Research Program in Genes, Environment and Health including 8,357 cases of rotator cuff injury and 94,622 controls. We found rs71404070 to show a genome-wide significant association with rotator cuff injury with p = 2.31x10-8 and an odds ratio of 1.25 per allele. This SNP is located next to cadherin8, which encodes a protein involved in cell adhesion. We also attempted to validate previous gene association studies that had reported a total of 18 SNPs showing a significant association with rotator cuff injury. However, none of the 18 SNPs were validated in our dataset. rs71404070 may be informative in explaining why some individuals are more susceptible to rotator cuff injury than others.
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Roos et al. (2017) conducted a case-control in Rotator cuff injury (n=102,979). rs71404070 risk allele vs. No risk allele was evaluated on Rotator cuff injury (OR 1.25, 95% CI 1.18-1.33, p=2.31x10-8). The rs71404070 single nucleotide polymorphism showed a genome-wide significant association with rotator cuff injury, increasing the risk by 25% per allele (OR 1.25).
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