The GDF5 gene and anterior cruciate ligament rupture

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.