The GDF5 gene and anterior cruciate ligament rupture

S M Raleigh, M Posthumus, D O'Cuinneagain, W van der Merwe, M Collins

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

A recent genetic association study has revealed that a variant (rs143383) within the 5'-untranslated region of the growth differentiation factor 5 gene (GDF5) associates with the risk of Achilles tendon pathology. The aim of this study was to determine whether this variant associates with the risk of ACL rupture. A cohort of 126 Caucasians with ACL rupture (ACL group), including 51 subjects who ruptured their ACL through a non-contact mechanism (NON sub-group), and 214 controls (CON group) were genotyped for the rs143383 variant. We report no significant GDF5 rs143383 genotype (P=0.396) or allele (P=0.810) frequency differences between the ACL (TT genotype, n=37, 29%; CT genotype, n=72, 57%; CC genotype, n=17, 14%) and CON (TT genotype, n=73, 34%; CT genotype, n=106, 50%; CC genotype, n=35, 16%) groups. There were also no significant differences between the NON sub-group and the CON group (allele; P=0.710, genotype; P=0.771). Furthermore, in gender specific analysis we found no association between rs143383 and ACL in either males (allele; P=0.988, genotype; P=0.407) or females (allele; P=0.643, genotype; P=0.885), respectively. Nor were there any gender specific associations between the NON sub-group and either genotype or allele. In conclusion, the rs143383 variant was not found to associate with the risk of ACL rupture.

Original languageEnglish
Pages (from-to)364-367
Number of pages4
JournalInternational Journal of Sports Medicine
Volume34
Issue number4
DOIs
Publication statusPublished - Apr 2013
Externally publishedYes

Fingerprint

Growth Differentiation Factor 5
Anterior Cruciate Ligament
Rupture
Genotype
Genes
Alleles
Achilles Tendon
5' Untranslated Regions
Genetic Association Studies

Keywords

  • 5' Untranslated Regions
  • Anterior Cruciate Ligament Injuries
  • Case-Control Studies
  • Cohort Studies
  • Female
  • Gene Frequency
  • Genotype
  • Growth Differentiation Factor 5
  • Humans
  • Male
  • Polymorphism, Single Nucleotide
  • Rupture
  • Journal Article
  • Research Support, Non-U.S. Gov't

Cite this

Raleigh, S. M., Posthumus, M., O'Cuinneagain, D., van der Merwe, W., & Collins, M. (2013). The GDF5 gene and anterior cruciate ligament rupture. International Journal of Sports Medicine, 34(4), 364-367. https://doi.org/10.1055/s-0032-1316361

The GDF5 gene and anterior cruciate ligament rupture. / Raleigh, S M; Posthumus, M; O'Cuinneagain, D; van der Merwe, W; Collins, M.

In: International Journal of Sports Medicine, Vol. 34, No. 4, 04.2013, p. 364-367.

Research output: Contribution to journalArticle

Raleigh, SM, Posthumus, M, O'Cuinneagain, D, van der Merwe, W & Collins, M 2013, 'The GDF5 gene and anterior cruciate ligament rupture' International Journal of Sports Medicine, vol. 34, no. 4, pp. 364-367. https://doi.org/10.1055/s-0032-1316361
Raleigh, S M ; Posthumus, M ; O'Cuinneagain, D ; van der Merwe, W ; Collins, M. / The GDF5 gene and anterior cruciate ligament rupture. In: International Journal of Sports Medicine. 2013 ; Vol. 34, No. 4. pp. 364-367.
@article{91b3ac1676034c1d91e1927d9c39c7a6,
title = "The GDF5 gene and anterior cruciate ligament rupture",
abstract = "A recent genetic association study has revealed that a variant (rs143383) within the 5'-untranslated region of the growth differentiation factor 5 gene (GDF5) associates with the risk of Achilles tendon pathology. The aim of this study was to determine whether this variant associates with the risk of ACL rupture. A cohort of 126 Caucasians with ACL rupture (ACL group), including 51 subjects who ruptured their ACL through a non-contact mechanism (NON sub-group), and 214 controls (CON group) were genotyped for the rs143383 variant. We report no significant GDF5 rs143383 genotype (P=0.396) or allele (P=0.810) frequency differences between the ACL (TT genotype, n=37, 29{\%}; CT genotype, n=72, 57{\%}; CC genotype, n=17, 14{\%}) and CON (TT genotype, n=73, 34{\%}; CT genotype, n=106, 50{\%}; CC genotype, n=35, 16{\%}) groups. There were also no significant differences between the NON sub-group and the CON group (allele; P=0.710, genotype; P=0.771). Furthermore, in gender specific analysis we found no association between rs143383 and ACL in either males (allele; P=0.988, genotype; P=0.407) or females (allele; P=0.643, genotype; P=0.885), respectively. Nor were there any gender specific associations between the NON sub-group and either genotype or allele. In conclusion, the rs143383 variant was not found to associate with the risk of ACL rupture.",
keywords = "5' Untranslated Regions, Anterior Cruciate Ligament Injuries, Case-Control Studies, Cohort Studies, Female, Gene Frequency, Genotype, Growth Differentiation Factor 5, Humans, Male, Polymorphism, Single Nucleotide, Rupture, Journal Article, Research Support, Non-U.S. Gov't",
author = "Raleigh, {S M} and M Posthumus and D O'Cuinneagain and {van der Merwe}, W and M Collins",
note = "{\circledC} Georg Thieme Verlag KG Stuttgart · New York.",
year = "2013",
month = "4",
doi = "10.1055/s-0032-1316361",
language = "English",
volume = "34",
pages = "364--367",
journal = "International Journal of Sports Medicine",
issn = "0172-4622",
publisher = "Thieme Publishing",
number = "4",

}

TY - JOUR

T1 - The GDF5 gene and anterior cruciate ligament rupture

AU - Raleigh, S M

AU - Posthumus, M

AU - O'Cuinneagain, D

AU - van der Merwe, W

AU - Collins, M

N1 - © Georg Thieme Verlag KG Stuttgart · New York.

PY - 2013/4

Y1 - 2013/4

N2 - A recent genetic association study has revealed that a variant (rs143383) within the 5'-untranslated region of the growth differentiation factor 5 gene (GDF5) associates with the risk of Achilles tendon pathology. The aim of this study was to determine whether this variant associates with the risk of ACL rupture. A cohort of 126 Caucasians with ACL rupture (ACL group), including 51 subjects who ruptured their ACL through a non-contact mechanism (NON sub-group), and 214 controls (CON group) were genotyped for the rs143383 variant. We report no significant GDF5 rs143383 genotype (P=0.396) or allele (P=0.810) frequency differences between the ACL (TT genotype, n=37, 29%; CT genotype, n=72, 57%; CC genotype, n=17, 14%) and CON (TT genotype, n=73, 34%; CT genotype, n=106, 50%; CC genotype, n=35, 16%) groups. There were also no significant differences between the NON sub-group and the CON group (allele; P=0.710, genotype; P=0.771). Furthermore, in gender specific analysis we found no association between rs143383 and ACL in either males (allele; P=0.988, genotype; P=0.407) or females (allele; P=0.643, genotype; P=0.885), respectively. Nor were there any gender specific associations between the NON sub-group and either genotype or allele. In conclusion, the rs143383 variant was not found to associate with the risk of ACL rupture.

AB - A recent genetic association study has revealed that a variant (rs143383) within the 5'-untranslated region of the growth differentiation factor 5 gene (GDF5) associates with the risk of Achilles tendon pathology. The aim of this study was to determine whether this variant associates with the risk of ACL rupture. A cohort of 126 Caucasians with ACL rupture (ACL group), including 51 subjects who ruptured their ACL through a non-contact mechanism (NON sub-group), and 214 controls (CON group) were genotyped for the rs143383 variant. We report no significant GDF5 rs143383 genotype (P=0.396) or allele (P=0.810) frequency differences between the ACL (TT genotype, n=37, 29%; CT genotype, n=72, 57%; CC genotype, n=17, 14%) and CON (TT genotype, n=73, 34%; CT genotype, n=106, 50%; CC genotype, n=35, 16%) groups. There were also no significant differences between the NON sub-group and the CON group (allele; P=0.710, genotype; P=0.771). Furthermore, in gender specific analysis we found no association between rs143383 and ACL in either males (allele; P=0.988, genotype; P=0.407) or females (allele; P=0.643, genotype; P=0.885), respectively. Nor were there any gender specific associations between the NON sub-group and either genotype or allele. In conclusion, the rs143383 variant was not found to associate with the risk of ACL rupture.

KW - 5' Untranslated Regions

KW - Anterior Cruciate Ligament Injuries

KW - Case-Control Studies

KW - Cohort Studies

KW - Female

KW - Gene Frequency

KW - Genotype

KW - Growth Differentiation Factor 5

KW - Humans

KW - Male

KW - Polymorphism, Single Nucleotide

KW - Rupture

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1055/s-0032-1316361

DO - 10.1055/s-0032-1316361

M3 - Article

VL - 34

SP - 364

EP - 367

JO - International Journal of Sports Medicine

JF - International Journal of Sports Medicine

SN - 0172-4622

IS - 4

ER -