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

L El Khoury, M Posthumus, M Collins, W van der Merwe, C Handley, J Cook, S M Raleigh

Research output: Contribution to journalArticle

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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
Pages (from-to)333-337
Number of pages5
JournalInternational Journal of Sports Medicine
Volume36
Issue number4
DOIs
Publication statusPublished - Apr 2015
Externally publishedYes

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

Bibliographical note

© 2016 Georg Thieme Verlag KG

Keywords

  • Achilles Tendon
  • Adult
  • Anterior Cruciate Ligament Injuries
  • Case-Control Studies
  • Elastin
  • Female
  • Fibrillin-2
  • Fibrillins
  • Genotype
  • Humans
  • Male
  • Microfilament Proteins
  • Middle Aged
  • Risk Factors
  • Rupture
  • Journal Article

Cite this

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

In: International Journal of Sports Medicine, Vol. 36, No. 4, 04.2015, p. 333-337.

Research output: Contribution to journalArticle

Khoury, L El ; Posthumus, M ; Collins, M ; van der Merwe, W ; Handley, C ; Cook, J ; Raleigh, S 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. pp. 333-337.
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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.",
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AU - Posthumus, M

AU - Collins, M

AU - van der Merwe, W

AU - Handley, C

AU - Cook, J

AU - Raleigh, S M

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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.

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