Variants within the MMP3 gene are associated with achilles tendinopathy: possible interaction with the COL5A1 gene

Stuart M Raleigh, L van der Merwe, William J Ribbans, R K Smith, M P Schwellnus, M Collins

Research output: Contribution to journalArticleResearchpeer-review

Abstract

Objectives: Sequence variation within the COL5A1 and TNC genes are known to associate with Achilles tendinopathy. The primary aim of this case-control genetic association study was to investigate whether variants within the matrix metalloproteinase 3 (MMP3) gene also contributed to both Achilles tendinopathy and Achilles tendon rupture in a Caucasian population. A secondary aim was to establish whether variants within the MMP3 gene interacted with the COL5A1 rs12722 variant to raise risk of these pathologies. Methods: 114 subjects with symptoms of Achilles tendon pathology and 98 healthy controls were genotyped for MMP3 variants rs679620, rs591058 and rs650108. Results: As single markers, significant associations were found between the GG genotype of rs679620 (OR = 2.5, 95% CI 1.2 to 4.90, p = 0.010), the CC genotype of rs591058 (OR = 2.3, 95% CI 1.1 to 4.50, p = 0.023) and the AA genotype of rs650108 (OR = 4.9, 95% CI 1.0 to 24.1, p = 0.043) and risk of Achilles tendinopathy. The ATG haplotype (rs679620, rs591058, and rs650108) was under-represented in the tendinopathy group when compared to the control group (41% vs 53%, p = 0.038). Finally, the G allele of rs679620 and the T allele of COL5A1 rs12722 significantly interacted to raise risk of AT (p = 0.006). No associations were found between any of the MMP3 markers and Achilles tendon rupture. Conclusion: Variants within the MMP3 gene are associated with Achilles tendinopathy. Furthermore, the MMP3 gene variant rs679620 and the COL5A1 marker rs12722 interact to modify the risk of tendinopathy. These data further support a genetic contribution to a common sports related injury
Original languageEnglish
Pages (from-to)514-520
Number of pages6
JournalBritish Journal of Sports Medicine
Volume43
Issue number7
DOIs
Publication statusPublished - 1 Jul 2009

Fingerprint

Matrix Metalloproteinase 3
Tendinopathy
Achilles Tendon
Genes
Genotype
Rupture
Alleles
Pathology
Athletic Injuries
Genetic Association Studies
Haplotypes
Control Groups
Population

Cite this

Raleigh, Stuart M ; van der Merwe, L ; Ribbans, William J ; Smith, R K ; Schwellnus, M P ; Collins, M. / Variants within the MMP3 gene are associated with achilles tendinopathy: possible interaction with the COL5A1 gene. In: British Journal of Sports Medicine. 2009 ; Vol. 43, No. 7. pp. 514-520.
@article{0b81c03949c04895b8e7d51fe9f53836,
title = "Variants within the MMP3 gene are associated with achilles tendinopathy: possible interaction with the COL5A1 gene",
abstract = "Objectives: Sequence variation within the COL5A1 and TNC genes are known to associate with Achilles tendinopathy. The primary aim of this case-control genetic association study was to investigate whether variants within the matrix metalloproteinase 3 (MMP3) gene also contributed to both Achilles tendinopathy and Achilles tendon rupture in a Caucasian population. A secondary aim was to establish whether variants within the MMP3 gene interacted with the COL5A1 rs12722 variant to raise risk of these pathologies. Methods: 114 subjects with symptoms of Achilles tendon pathology and 98 healthy controls were genotyped for MMP3 variants rs679620, rs591058 and rs650108. Results: As single markers, significant associations were found between the GG genotype of rs679620 (OR = 2.5, 95{\%} CI 1.2 to 4.90, p = 0.010), the CC genotype of rs591058 (OR = 2.3, 95{\%} CI 1.1 to 4.50, p = 0.023) and the AA genotype of rs650108 (OR = 4.9, 95{\%} CI 1.0 to 24.1, p = 0.043) and risk of Achilles tendinopathy. The ATG haplotype (rs679620, rs591058, and rs650108) was under-represented in the tendinopathy group when compared to the control group (41{\%} vs 53{\%}, p = 0.038). Finally, the G allele of rs679620 and the T allele of COL5A1 rs12722 significantly interacted to raise risk of AT (p = 0.006). No associations were found between any of the MMP3 markers and Achilles tendon rupture. Conclusion: Variants within the MMP3 gene are associated with Achilles tendinopathy. Furthermore, the MMP3 gene variant rs679620 and the COL5A1 marker rs12722 interact to modify the risk of tendinopathy. These data further support a genetic contribution to a common sports related injury",
author = "Raleigh, {Stuart M} and {van der Merwe}, L and Ribbans, {William J} and Smith, {R K} and Schwellnus, {M P} and M Collins",
year = "2009",
month = "7",
day = "1",
doi = "10.1136/bjsm.2008.053892",
language = "English",
volume = "43",
pages = "514--520",
journal = "British Journal of Sports Medicine",
issn = "0306-3674",
publisher = "BMJ Publishing Group",
number = "7",

}

Variants within the MMP3 gene are associated with achilles tendinopathy: possible interaction with the COL5A1 gene. / Raleigh, Stuart M; van der Merwe, L; Ribbans, William J; Smith, R K; Schwellnus, M P; Collins, M.

In: British Journal of Sports Medicine, Vol. 43, No. 7, 01.07.2009, p. 514-520.

Research output: Contribution to journalArticleResearchpeer-review

TY - JOUR

T1 - Variants within the MMP3 gene are associated with achilles tendinopathy: possible interaction with the COL5A1 gene

AU - Raleigh, Stuart M

AU - van der Merwe, L

AU - Ribbans, William J

AU - Smith, R K

AU - Schwellnus, M P

AU - Collins, M

PY - 2009/7/1

Y1 - 2009/7/1

N2 - Objectives: Sequence variation within the COL5A1 and TNC genes are known to associate with Achilles tendinopathy. The primary aim of this case-control genetic association study was to investigate whether variants within the matrix metalloproteinase 3 (MMP3) gene also contributed to both Achilles tendinopathy and Achilles tendon rupture in a Caucasian population. A secondary aim was to establish whether variants within the MMP3 gene interacted with the COL5A1 rs12722 variant to raise risk of these pathologies. Methods: 114 subjects with symptoms of Achilles tendon pathology and 98 healthy controls were genotyped for MMP3 variants rs679620, rs591058 and rs650108. Results: As single markers, significant associations were found between the GG genotype of rs679620 (OR = 2.5, 95% CI 1.2 to 4.90, p = 0.010), the CC genotype of rs591058 (OR = 2.3, 95% CI 1.1 to 4.50, p = 0.023) and the AA genotype of rs650108 (OR = 4.9, 95% CI 1.0 to 24.1, p = 0.043) and risk of Achilles tendinopathy. The ATG haplotype (rs679620, rs591058, and rs650108) was under-represented in the tendinopathy group when compared to the control group (41% vs 53%, p = 0.038). Finally, the G allele of rs679620 and the T allele of COL5A1 rs12722 significantly interacted to raise risk of AT (p = 0.006). No associations were found between any of the MMP3 markers and Achilles tendon rupture. Conclusion: Variants within the MMP3 gene are associated with Achilles tendinopathy. Furthermore, the MMP3 gene variant rs679620 and the COL5A1 marker rs12722 interact to modify the risk of tendinopathy. These data further support a genetic contribution to a common sports related injury

AB - Objectives: Sequence variation within the COL5A1 and TNC genes are known to associate with Achilles tendinopathy. The primary aim of this case-control genetic association study was to investigate whether variants within the matrix metalloproteinase 3 (MMP3) gene also contributed to both Achilles tendinopathy and Achilles tendon rupture in a Caucasian population. A secondary aim was to establish whether variants within the MMP3 gene interacted with the COL5A1 rs12722 variant to raise risk of these pathologies. Methods: 114 subjects with symptoms of Achilles tendon pathology and 98 healthy controls were genotyped for MMP3 variants rs679620, rs591058 and rs650108. Results: As single markers, significant associations were found between the GG genotype of rs679620 (OR = 2.5, 95% CI 1.2 to 4.90, p = 0.010), the CC genotype of rs591058 (OR = 2.3, 95% CI 1.1 to 4.50, p = 0.023) and the AA genotype of rs650108 (OR = 4.9, 95% CI 1.0 to 24.1, p = 0.043) and risk of Achilles tendinopathy. The ATG haplotype (rs679620, rs591058, and rs650108) was under-represented in the tendinopathy group when compared to the control group (41% vs 53%, p = 0.038). Finally, the G allele of rs679620 and the T allele of COL5A1 rs12722 significantly interacted to raise risk of AT (p = 0.006). No associations were found between any of the MMP3 markers and Achilles tendon rupture. Conclusion: Variants within the MMP3 gene are associated with Achilles tendinopathy. Furthermore, the MMP3 gene variant rs679620 and the COL5A1 marker rs12722 interact to modify the risk of tendinopathy. These data further support a genetic contribution to a common sports related injury

U2 - 10.1136/bjsm.2008.053892

DO - 10.1136/bjsm.2008.053892

M3 - Article

VL - 43

SP - 514

EP - 520

JO - British Journal of Sports Medicine

JF - British Journal of Sports Medicine

SN - 0306-3674

IS - 7

ER -