Evidence map›Paper›PMID 29143592›Full record

ArticleBMC genomics2017

COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby.

Shane M Heffernan, Liam P Kilduff, Robert M Erskine, Stephen H Day, Georgina K Stebbings, Christian J Cook, Stuart M Raleigh, Mark A Bennett, Guan Wang, Malcolm Collins and 2 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC genomics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
2.0field-weighted citation impact, top 16% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 28 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 7 institutions in 2 countries.

Shane M HeffernanMMU Sports Genomics Laboratory, Manchester Metropolitan University, Crewe, Manchester, UK. shane.heffernan@ucd.ie.
Liam P KilduffA-STEM, College of Engineering, Swansea University, Swansea, UK.
Robert M ErskineResearch Institute for Sport & Exercise Sciences, Liverpool John Moores University, Liverpool, UK.
Stephen H DayMMU Sports Genomics Laboratory, Manchester Metropolitan University, Crewe, Manchester, UK.
Georgina K StebbingsMMU Sports Genomics Laboratory, Manchester Metropolitan University, Crewe, Manchester, UK.
Christian J CookA-STEM, College of Engineering, Swansea University, Swansea, UK.
Stuart M RaleighCentre for Physical Activity and Chronic Disease, Institute of Health and Wellbeing, University of Northampton, Northampton, UK.
Mark A BennettA-STEM, College of Engineering, Swansea University, Swansea, UK.
Guan WangFIMS Reference Collaborating Centre of Sports Medicine for Anti-Doping Research, University of Brighton, Brighton, UK.
Malcolm CollinsDivision of Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town (UCT), Cape Town, South Africa.
Yannis P PitsiladisFIMS Reference Collaborating Centre of Sports Medicine for Anti-Doping Research, University of Brighton, Brighton, UK.
Alun G WilliamsMMU Sports Genomics Laboratory, Manchester Metropolitan University, Crewe, Manchester, UK.
Swansea University · GBManchester Metropolitan University · GBUniversity College London · GBUniversity of Brighton · GBGenomics (United Kingdom) · GBUniversity of Cape Town · ZAUniversity of Northampton · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTwo common single nucleotide polymorphisms within the COL5A1 gene (SNPs; rs12722 C/T and rs3196378 C/A) have previously been associated with tendon and ligament pathologies. Given the high incidence of tendon and ligament injuries in elite rugby athletes, we hypothesised that both SNPs would be associated with career success.

resultsIn 1105 participants (RugbyGene project), comprising 460 elite rugby union (RU), 88 elite rugby league athletes and 565 non-athlete controls, DNA was collected and genotyped for the COL5A1 rs12722 and rs3196378 variants using real-time PCR. For rs12722, the injury-protective CC genotype and C allele were more common in all athletes (21% and 47%, respectively) and RU athletes (22% and 48%) than in controls (16% and 41%, P ≤ 0.01). For rs3196378, the CC genotype and C allele were overrepresented in all athletes (23% and 48%) and RU athletes (24% and 49%) compared with controls (16% and 41%, P ≤ 0.02). The CC genotype in particular was overrepresented in the back and centres (24%) compared with controls, with more than twice the odds (OR = 2.25, P = 0.006) of possessing the injury-protective CC genotype. Furthermore, when considering both SNPs simultaneously, the CC-CC SNP-SNP combination and C-C inferred allele combination were higher in all the athlete groups (≥18% and ≥43%) compared with controls (13% and 40%; P = 0.01). However, no genotype differences were identified for either SNP when RU playing positions were compared directly with each other.

conclusionIt appears that the C alleles, CC genotypes and resulting combinations of both rs12722 and rs3196378 are beneficial for rugby athletes to achieve elite status and carriage of these variants may impart an inherited resistance against soft tissue injury, despite exposure to the high-risk environment of elite rugby. These data have implications for the management of inter-individual differences in injury risk amongst elite athletes.

Indexed as

AthletesFootballPolymorphism, Single NucleotideAdultAllelesCollagen Type VGenetic Predisposition to DiseaseHaplotypesHumansMaleSoft Tissue InjuriesCOL5A1 protein, humanCollagen Type VGeneticsLigamentRugby leagueRugby unionTendon

Identifiers

PMID29143592
PMCPMC5688435
OpenAlexW2612212846

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.