Shameemah Abrahams, Michael Posthumus and Malcolm Collins
Endurance-running performance and joint range of motion (ROM) are both multifactorial phenotypes. A single-nucleotide polymorphism, rs172722 (C/T), in the COL5A1 3′-untranslated region (UTR) was shown to independently associate with both phenotypes. Two major functional forms of the COL5A1 3′-UTR have been identified and differ by 7 tightly linked polymorphisms that include rs12722 and a short tandem-repeat polymorphism (STRP rs71746744, –/AGGG). It has been proposed that STRP rs71746744 plays a role in the predicted secondary structures and mRNA stability of the 2 major forms of the COL5A1 3′-UTR, therefore implying a regulatory role. The aim of this study was to determine whether STRP rs71746744 is independently associated with running performance and prerace sit-and-reach range of motion (SR ROM) in a cohort of ultramarathon road runners.
One hundred six (74 men and 32 women, age 22–67 y) white runners who participated in either the 2009 or 2011 Two Oceans 56-km ultramarathon were included in this cross-sectional study. Their SR ROM measurements, COL5A1 rs71746744 genotype, and overall race times were determined.
COL5A1 rs71746744 was independently associated with running performance (P = .024) and prerace sr rom (P = .020). Moreover, the AGGG/AGGG genotype was significantly overrepresented in the fastest and inflexible athletes compared with those with either the –/AGGG or –/– genotype.
These findings provide further evidence for a relationship between COL5A1, running performance, and SR ROM. Further studies are needed to investigate the effect of this variant on the mechanical properties of connective tissue.
James C. Brown, Caron-Jayne Miller, Michael Posthumus, Martin P. Schwellnus and Malcolm Collins
Endurance running performance is a multifactorial phenotype that is strongly associated with running economy. Sit and reach range of motion (SR ROM) is negatively associated with running economy, suggesting that reduced SR ROM is advantageous for endurance running performance. The COL5A1 gene has been associated with both endurance running performance and SR ROM in separate cohorts. The aim of this study was to investigate whether COL5A1 is associated with ultra-marathon running performance and whether this relationship could be partly explained by prerace SR ROM.
Seventy-two runners (52 male, 20 female) were recruited from the 56 km Two Oceans ultra-marathon and were assessed for prerace SR ROM. The cohort was genotyped for the COL5A1 BsfUI restriction fragment length polymorphism, and race times were collected after the event.
Participants with a TT genotype (341 ± 41 min, N = 21) completed the 56 km Two Oceans ultra-marathon significantly (P = 0.014) faster than participants with TC and CC genotypes (365 ± 39 min, N = 50). The COL5A1 genotype and age accounted for 19% of performance variance. When the cohort was divided into performance and flexibility quadrants, the T allele was significantly (P = 0.044) over-represented within the fast and inflexible quadrant.
The COL5A1 genotype was found to be significantly associated with performance in a 56 km ultra-endurance run. This study confirms previous findings and it furthers our understanding of the relationships among ROM, COL5A1, and endurance running performance. We continue to speculate that the COL5A1 gene alters muscle-tendon stiffness.