The Association of Variants within Types V and XI Collagen Genes with Knee Joint Laxity Measurements.

Joint laxity is a multifactorial phenotype with a heritable component. Mutations or common polymorphisms within the α1(V) () α1(XI) () and α2(XI) () collagen genes have been reported or proposed to associate with joint hypermobility, range of motion and/or genu recurvatum. The aim of this study was to investigate whether polymorphisms within these collagen-encoding genes are associated with measurements of knee joint laxity and computed ligament length changes within the non-dominant leg. One hundred and six healthy participants were assessed for genu recurvatum (knee hyperextension), anterior-posterior tibial translation, external-internal tibial rotation and ligament length changes during knee rotation of their non-dominant leg. Participants were genotyped for rs12722 (T/C), rs3753841 (C/T), rs1676486 (T/C) and rs1799907 (A/T). The genotype-genotype combination of any two or more of the four rs12722 CC, rs3753841 CC, rs1676486 TT and rs1799907 AA genotypes was associated with decreased active and passive knee hyperextension. These genotype-genotype combinations, including sex (male), increased age and decreased body mass collectively, also contributed to decreased passive knee hyperextension. These findings suggest that , and gene-gene interactions are associated with knee hyperextension measurements of the non-dominant leg of healthy individuals.