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Tendinopathies in lower extremities (legs)

Physical Performance

Lower-extremity tendinopathies include patellar, Achilles, and other leg tendon overuse injuries, common in runners and jumpers.

GWAS and candidate-gene work has identified variants near collagen and matrix genes linked to leg tendinopathies.

This result reflects research-level variation in tendon biology and is not a clinical assessment.

Training load, surface, footwear, biomechanics, calf and hip strength, recovery, and prior injury all strongly affect real leg tendon problems.

All traits Compare samples

Selected sample: Demo Report
Report markers: 3 SNP entries
Genes: 1
Research: 1 study

Important Medical Disclaimer

This report is intended for educational and informational purposes only. It is not intended to provide medical advice or be used solely by the customer in the diagnosis, cure, mitigation, treatment, or prevention of any disease or health condition. If you have serious medical conditions, including but not limited to weight-related issues, diabetes, or heart disease, you should not make changes to your diet or exercise routine without consulting your healthcare provider. Under no circumstances should you modify your medication or medical care without professional medical guidance. Find more information at this link

Your report

Genetic tendency

Slightly higher tendency of tendinopathies in lower extremities (legs)

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Evidence and coverage

Confidence score

Very high

Read the evidence rating alongside the markers detected in your file. Confidence and tendency describe different aspects of this report.

Markers detected3 / 3100% coverage of report entries

Trait influence breakdown

Genetic 60% 60% Environment 40% 40%

Explore the evidence

Behind this report

Review the genes, tested markers and supporting research.

Genes analyzed

Gene summaries include genomic locations and associated markers. A detected genotype does not by itself indicate a health condition.

Understanding the data

SNP: A specific genetic marker relevant to this trait.
Genotype: The DNA letters reported at a marker location.
Variant allele: The alternative DNA sequence at the SNP site.
Variant allele frequency: The reported percentage of the reference population carrying this variant.
Variant found: Whether the variant was detected in your DNA file.

1 of 1 genes have detected genotypes.

COL5A1

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

GeneCards

Chromosome: 9
Start: 134,641,789
End: 134,844,843
Build: HG19

Associated SNPs 1 / 1 detected

Associated markers for COL5A1
SNP	Genotype	Ref. allele	Variant allele	Frequency	Status
rs12722	CT	C	T	34.94%	Detected

SNPs tested

These are the unique genetic markers analyzed for this trait. Genotypes showing "--" were not identified in your DNA file. Report marker totals can include repeated study entries; this table shows each SNP once.

Genotypes and reported variant frequencies
SNP	Chromosome	Genotype	Variant allele	Frequency
rs12722	9	CT	T	34.94%

DNA Genics reports genotypes based on the 'positive' strand of the human genome reference sequence (build 37/HG19). Other companies may use the opposite strand, so genotypes may need conversion for comparison.

Research studies

The following peer-reviewed scientific studies support the genetic associations analyzed in this report.

Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene

Evidence

Statistical significance

2009 Jul

Authors: Raleigh SM, van der Merwe L, Ribbans WJ, Smith RK, Schwellnus MP, Collins M