ELN and FBN2 gene variants as risk factors for two sports-related musculoskeletal injuries

Louis El Khoury, Michael Posthumus, M Collins, W van der Merwe, C J Handley, J Cook, Stuart M Raleigh

Research output: Contribution to journalArticle

Abstract

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.
Original languageEnglish
JournalInternational Journal of Sports Medicine
Volume36
Issue number4
DOIs
Publication statusPublished - 1 Apr 2015

Fingerprint

Anterior Cruciate Ligament
Sports
Tendinopathy
Rupture
Wounds and Injuries
Genes
Gene Frequency
Causality
Extracellular Matrix
Analysis of Variance
Cohort Studies
Genotype
Pathology
Control Groups
Proteins

Keywords

  • Gene
  • achilles tendinopathy
  • tendon rupture
  • ligament rupture
  • injury prevention

Cite this

El Khoury, L., Posthumus, M., Collins, M., van der Merwe, W., Handley, C. J., Cook, J., & Raleigh, S. M. (2015). ELN and FBN2 gene variants as risk factors for two sports-related musculoskeletal injuries. International Journal of Sports Medicine, 36(4). https://doi.org/10.1055/s-0034-1390492
El Khoury, Louis ; Posthumus, Michael ; Collins, M ; van der Merwe, W ; Handley, C J ; Cook, J ; Raleigh, Stuart M. / ELN and FBN2 gene variants as risk factors for two sports-related musculoskeletal injuries. In: International Journal of Sports Medicine. 2015 ; Vol. 36, No. 4.
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El Khoury, L, Posthumus, M, Collins, M, van der Merwe, W, Handley, CJ, Cook, J & Raleigh, SM 2015, 'ELN and FBN2 gene variants as risk factors for two sports-related musculoskeletal injuries', International Journal of Sports Medicine, vol. 36, no. 4. https://doi.org/10.1055/s-0034-1390492

ELN and FBN2 gene variants as risk factors for two sports-related musculoskeletal injuries. / El Khoury, Louis; Posthumus, Michael; Collins, M; van der Merwe, W; Handley, C J; Cook, J; Raleigh, Stuart M.

In: International Journal of Sports Medicine, Vol. 36, No. 4, 01.04.2015.

Research output: Contribution to journalArticle

TY - JOUR

T1 - ELN and FBN2 gene variants as risk factors for two sports-related musculoskeletal injuries

AU - El Khoury, Louis

AU - Posthumus, Michael

AU - Collins, M

AU - van der Merwe, W

AU - Handley, C J

AU - Cook, J

AU - Raleigh, Stuart M

PY - 2015/4/1

Y1 - 2015/4/1

N2 - 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.

AB - 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.

KW - Gene

KW - achilles tendinopathy

KW - tendon rupture

KW - ligament rupture

KW - injury prevention

U2 - 10.1055/s-0034-1390492

DO - 10.1055/s-0034-1390492

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VL - 36

JO - International Journal of Sports Medicine

JF - International Journal of Sports Medicine

SN - 0172-4622

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ER -