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Int J Sports Med 2013; 34(04): 364-367
DOI: 10.1055/s-0032-1316361
Genetics & Molecular Biology
© Georg Thieme Verlag KG Stuttgart · New York

The GDF5 Gene and Anterior Cruciate Ligament Rupture

S. M. Raleigh
1   Division of Health and Life Science, University of Northampton, Northampton, United Kingdom
,
M. Posthumus
2   UCT/MRC Research unit for Exercise Science and Sports Medicine, The Department of Human Biology, University of Cape Town, Cape Town, South Africa
,
D. O’Cuinneagain
3   The Sports Science Orthopaedic Clinic, Cape Town, South Africa
,
W. van der Merwe
3   The Sports Science Orthopaedic Clinic, Cape Town, South Africa
,
M. Collins
2   UCT/MRC Research unit for Exercise Science and Sports Medicine, The Department of Human Biology, University of Cape Town, Cape Town, South Africa
› Author Affiliations
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Publication History



accepted after revision 27 May 2012

Publication Date:
22 October 2012 (online)

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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.

Key words

genotype - ACL - rupture - GDF5

Supplementary Material

 

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