Key result
The GG genotype of the FBN2 rs331079 variant was significantly associated with an increased risk of Achilles tendinopathy (OR 1.83) compared to controls.
Why the study?
The ELN rs2071307 and FBN2 rs331079 gene variants have been associated with soft tissue pathologies, but their role as predisposing factors for Achilles tendinopathy and ACL ruptures was unclear.
Are the ELN rs2071307 and FBN2 rs331079 gene variants predisposing factors for Achilles tendinopathy and anterior cruciate ligament ruptures?
Case-Control (n=734)
Yes
Are the ELN rs2071307 and FBN2 rs331079 gene variants predisposing factors for Achilles tendinopathy and anterior cruciate ligament ruptures?
DNA sequence variation within the FBN2 gene is associated with an increased risk of both Achilles tendinopathy and anterior cruciate ligament rupture.
Answers are grounded in this paper and cite their sources.
May guide genetic risk assessment in athletes with tendon injuries; leaves open prospective validation before any clinical adoption.
The proteins ELN and FBN2 are important in extracellular matrix function. The ELN rs2071307 and FBN2 rs331079 gene variants have been associated with soft tissue pathologies. We aimed to determine whether these variants were predisposing factors for both Achilles tendinopathy (AT) and anterior cruciate ligament (ACL) ruptures. For the AT study, 135 cases (TEN group) and 239 asymptomatic controls were recruited. For the ACL rupture study our cohort consisted of 141 cases (ACL group) and 219 controls. Samples were genotyped for both the ELN rs2071307 and FBN2 rs331079 variants using TaqMan assays. Analysis of variance and chi-squared tests were used to determine whether either variant was associated with AT or ACL rupture with significance set at p<0.05. The GG genotype of the FBN2 variant was significantly over-represented within the TEN group (p=0.035; OR=1.83; 95% CI 1.04-3.25) compared to the CON group. We also found that the frequency of the G allele was significantly different between the TEN (p=0.017; OR=1.90; 95% CI 1.11-3.27) and ACL groups (p=0.047; OR=1.76; 95% CI 1.00-3.10) compared to controls. The ELN rs207137 variant was not associated with either AT or ACL rupture. In conclusion, DNA sequence variation within the FBN2 gene is associated with both AT and ACL rupture.
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Khoury et al. (2014) conducted a case-control in Achilles tendinopathy and anterior cruciate ligament rupture (n=734). FBN2 rs331079 gene variant (GG genotype) vs. Non-GG genotypes (Controls) was evaluated on Association of the FBN2 rs331079 GG genotype with Achilles tendinopathy (OR 1.83, 95% CI 1.04-3.25, p=0.035). The GG genotype of the FBN2 rs331079 variant was significantly associated with an increased risk of Achilles tendinopathy (OR 1.83) compared to controls.
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