Variants within theCOMPandTHBS2genes are not associated with Achilles tendinopathy in a case-control study of South African and Australian populations

Abstract

Cartilage oligomeric matrix protein is a structural protein of the extracellular matrix, while thrombospondin-2 is a matricellular protein involved in cell-matrix interactions. Recent studies have shown that genetic variation is a significant risk factor for Achilles tendinopathy, and the genes encoding cartilage oligomeric matrix protein (COMP) and thrombospondin-2 (THBS2) were identified as good candidate genes for association with Achilles tendinopathy. This study aimed to test the association of sequence variants within these candidate genes with the risk of Achilles tendinopathy in participants from South Africa (SA) and Australia (AUS). Three-hundred and forty (133 SA; 207 AUS) control participants with no history of Achilles tendinopathy and 178 (94 SA; 84 AUS) participants clinically diagnosed with Achilles tendinopathy were genotyped for five single nucleotide polymorphisms within the COMP and THBS2 genes in this case-control study. There was no difference in genotype distributions between control and tendinopathy groups for either the THBS2 variants rs9505888, rs6422747 and rs9283850, or the COMP variants rs730079 and rs28494505 in the SA and AUS populations. As the selection of COMP and THBS2 as candidate genes was hypothesis driven, based on biological function, the possibility that other variants within these genes are associated with Achilles tendinopathy cannot be excluded.

Achilles Pain, Stiffness, and Muscle Power Deficits: Midportion Achilles Tendinopathy Revision 2018

“…46,61,155 The relationship between genotype, abnormal collagen, mechanical stress, and symptom presentation is multifactorial and not well understood. 11,72,156,163,172…”

Semantic interrogation of a multi knowledge domain ontological model of tendinopathy identifies four strong candidate risk genes

“…In recent years, several tendinopathy candidate genes have been investigated resulting in the successful identification of genetic variants that contribute to risk with moderate to large effect sizes 2 7 . Several other studies have found no association between the candidate variants investigated and the condition 10 11 12 13 . However, it is worth noting that using this approach, the lack of association with a candidate variant does not exclude other variants within that gene as contributors to tendinopathy risk.…”

Genetic Factors in Tendon Injury: A Systematic Review of the Literature

“…Both proteins are believed to be involved in cell-to-cell adhesion and communication. 20 , 80 Saunders et al 69 investigated the COMP and THBS2 genes in 178 Achilles tendinopathy and 340 control patients. They failed to find any significant differences in genotype distributions for the COMP variants rs730079 ( P = .73) and rs28494505 ( P = .99) or for the THBS2 variants rs9505888 ( P = .24), rs6422747 ( P = .65), and rs 9283850 ( P = .60).…”