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.
authors.affiliation: Division of Health and Life Science, University of Northampton, Northampton, United Kingdom. stuart.raleigh@northampton.ac.uk
authors.forename: S M
authors.initials: SM
authors.lastname: Raleigh
authors.forename: M
authors.initials: M
authors.lastname: Posthumus
authors.forename: D
authors.initials: D
authors.lastname: O'Cuinneagain
authors.forename: W
authors.initials: W
authors.lastname: van der Merwe
authors.forename: M
authors.initials: M
authors.lastname: Collins
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics*; D000070598:Anterior Cruciate Ligament Injuries; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D055428:Growth Differentiation Factor 5 / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012421:Rupture / Q000235:genetics
chemical_list: D020121:5' Untranslated Regions; C525893:GDF5 protein, human; D055428:Growth Differentiation Factor 5