Northampton Electronic Collection of Theses and Research

The GDF5 gene and anterior cruciate ligament rupture

Raleigh, S. M., Posthumus, M., O'Cuinneagain, D., van der Merwe, W. and Collins, M. (2013) The GDF5 gene and anterior cruciate ligament rupture. International Journal of Sports Medicine. 34(4), pp. 364-367. 0172-4622.

Item Type: Article
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 noncontact 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.
Uncontrolled Keywords: genotype, ACL, rupture, GDF5
Subjects: R Medicine > RC Internal medicine > RC1200 Sports Medicine
R Medicine > RB Pathology > RB151 Theories of disease. Etiology. Pathogenesis > RB155 Medical genetics
Creators: Raleigh, Stuart M, Posthumus, Michael, O'Cuinneagain, D, van der Merwe, W and Collins, M
Publisher: Thieme
Northamptonshire and East Midlands: Health
Faculties, Divisions and Institutes: University Faculties, Divisions and Research Centres - OLD > Faculty of Health & Society > Sports, Exercise & Life Sciences
University Faculties, Divisions and Research Centres - OLD > Research Centre > Institute of Health and Wellbeing > Centre for Physical Activity and Chronic Disease
Faculties > Faculty of Health & Society > Sports, Exercise & Life Sciences
Research Centres > Centre for Health Sciences and Services
Research Centres > Centre for Physical Activity and Life Sciences
Date: April 2013
Date Type: Publication
Page Range: pp. 364-367
Journal or Publication Title: International Journal of Sports Medicine
Volume: 34
Number: 4
Language: English
DOI: https://doi.org/10.1055/s-0032-1316361
ISSN: 0172-4622
Status: Published / Disseminated
URI: http://nectar.northampton.ac.uk/id/eprint/5189

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