Traits - Lumbar disc disease resistance

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Lumbar disc disease resistance

Physical Performance

Lumbar disc disease covers degeneration and herniation of intervertebral discs in the lower back, a common cause of back pain.

GWAS work has identified variants near collagen, growth factor, and disc-matrix genes linked to lumbar disc problems.

This result reflects research-level variation in disc biology and is not a clinical diagnosis or imaging finding.

Lifting, posture, body weight, smoking, occupation, prior injury, age, and conditioning all strongly affect actual disc problems.

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3 SNP entries
Genes
1
Research
2 studies
Your report

Genetic tendency

Increased tendency of intervertebral disc degeneration

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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.

CILP

Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]

GeneCards
Chromosome
15
Start
65,194,760
End
65,213,142
Build
HG19
Associated SNPs 1 / 1 detected
Associated markers for CILP
SNPGenotype Ref. alleleVariant alleleFrequencyStatus
rs2073711 GG AG49.66%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
SNPChromosomeGenotypeVariant alleleFrequency
rs207371115GGG49.66%

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.

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Coverage: 3/3 SNP entries detected (100%).

Reference: Human Genome Build 37 (HG19). Other testing companies may report using the opposite strand, requiring conversion for comparison.

DEMO Sample report with example data. Not your results.
SAMPLE REPORT Example DNA profile This is a sample report with example data. It is not your personal report, and the results do not describe you.
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