Achilles tendon pathology (ATP) is a multifactorial condition for which genetic risk factors have been identified. The type V collagen gene (COL5A1), among other genes, has been associated with risk of ATP in two independent populations. The ADAMTS (A Disintegrin And Metalloproteinase with Thrombospondin Motifs) enzymes are important regulators of tendon homeostasis and integrity. The ADAMTS2 AND ADAMTS14 genes are procollagen N-propeptidases for collagens such as type I and type III. Mutations within ADAMTS2, as with COL5A1, have been linked to Ehlers-Danlos syndrome. The aim was to determine if two selected non-synonymous polymorphism within the ADAMTS2 AND ADAMTS14 genes associate with risk of ATP in two independent populations. 213 (115 cases with ATP and 98 asymptomatic controls) South African Caucasian participants and 209 cases (60 cases with ATP and 149 asymptomatic controls) Australian Caucasian participants were recruited for this case-control genetic association study. All participants were genotyped using TaqMan technology for the ADAMTS2 G/A rs1054480 and ADAMTS14 A/G rs4747096 polymorphisms. There was no significant association between the ADAMTS2 rs1054480 and the ADAMTS14 rs4747096 polymorphism with ATP in either the South African (ADAMTS2, P=0.292; ADAMTS14, P=0.531), Australian (ADAMTS2, P=0.703; ADAMTS14, P=0.152) or combined. This study shows that the investigated polymorphisms within the ADAMTS2 and ADAMTS14 genes are not associated with the risk of developing ATP in two independent Caucasian populations.
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