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rs1800587 (IL1A)

What you carry at this position in your DNA and what research says about it.

Spinal Disc Health: 5/10 evidence, 50 publications.

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Sample genotype (not yours): G/G

Typical Spinal Disc and Metabolic Risk

A baseline genetic profile is associated with a typical risk for spinal disc degeneration and standard waist circumference. This genotype represents the standard level of interleukin-1 alpha expression.

What this genotype means: Baseline risk of spinal disc degeneration; Typical waist circumference.

Sample genotype (not yours): A/A

Significantly Higher Risk of Spinal Disc Disease

Two copies of the A allele are associated with a much higher risk of intervertebral disc disease and a slightly larger waist circumference. This genotype is linked to elevated inflammatory activity in the body.

What this genotype means: ~7.8x higher risk of intervertebral disc disease; Larger average waist circumference; Elevated systemic inflammatory response.

Sample genotype (not yours): G/A

Slightly Higher Risk of Spinal Disc Degeneration

A single copy of the A allele is associated with a slightly increased susceptibility to lumbar disc disease. This genotype may lead to slightly higher levels of inflammation in joint and spinal tissues.

What this genotype means: ~1.3x higher risk of lumbar disc disease; Slightly elevated inflammatory response.

About IL1A

Gene function and biological role

Gene Function: The IL1A gene encodes interleukin-1 alpha, a crucial pro-inflammatory cytokine that plays a central role in the body's immune response and inflammatory cascades [1]. It is involved in various cellular activities, including cell growth, tissue repair, and the regulation of other inflammatory mediators [2]. Overproduction or dysregulation of interleukin-1 alpha can lead to chronic inflammatory states and tissue breakdown, particularly in collagen-rich structures like the spine [3]. This gene's activity is closely linked to joint health, bone density, and susceptibility to inflammatory disorders [4].

Variant Impact: The rs1800587 variant, also known as -889C>T, is located in the promoter region of the IL1A gene and directly influences its transcriptional activity [5]. The minor A allele is associated with increased expression of interleukin-1 alpha, leading to heightened inflammatory responses [2]. This elevated inflammation can accelerate the degradation of extracellular matrix in the intervertebral discs, increasing susceptibility to spinal degeneration [6]. Additionally, this variant has been studied for its broader systemic effects on metabolic health and inflammatory pain [7].

Key Insight: This genetic variant can increase the risk of intervertebral disc disease by up to 7.8-fold for individuals carrying two copies of the minor allele. It is also associated with a slightly larger waist circumference and a higher likelihood of persistent pain following a spinal disc herniation.

Location: IL1A. Chromosome 2 · 2q14.1 · 112.8 Mb

Genotype Frequencies

Estimated prevalence by population

Global 47.0%; European 49.6%; African 37.0%; East Asian 84.9%; South Asian 50.3%; Americas 50.2%; Ashkenazi 43.1%; Finnish 46.8%; Middle Eastern 39.2%; Amish 35.1%.

Estimated GG genotype frequency.

Global 42.6%; European 41.6%; African 47.7%; East Asian 14.5%; South Asian 41.3%; Americas 41.3%; Ashkenazi 45.1%; Finnish 43.2%; Middle Eastern 46.8%; Amish 48.3%.

Estimated GA genotype frequency.

Global 10.5%; European 8.7%; African 15.4%; East Asian 0.6%; South Asian 8.5%; Americas 8.5%; Ashkenazi 11.8%; Finnish 10.0%; Middle Eastern 14.0%; Amish 16.6%.

Estimated AA genotype frequency.

Associated Traits

Showing effects for G/G genotype

Organ Systems

Bone, Joint & Connective Tissue Health

Spinal Disc Disease. Evidence: 3/10. Source: PMID 17471097. Typical Risk.

Dental & Oral Health

Periodontitis. Evidence: 5/10. Source: PMID 31324923. Typical Risk.

Cardiovascular & Metabolic

Obesity & Body Composition

Waist Circumference. Evidence: 3/10. Source: PMID 18716798. Typical.

Neurology & Mental Health

Neurodegenerative Diseases

Alzheimer's Disease. Evidence: 4/10. Source: PMID 19158434. Typical Risk.

Showing effects for A/A genotype

Spinal Disc Disease. Evidence: 3/10. Source: PMID 17471097. ~7.8x Higher Risk.

Periodontitis. Evidence: 5/10. Source: PMID 31324923. Increased Risk.

Waist Circumference. Evidence: 3/10. Source: PMID 18716798. Increased.

Showing effects for G/A genotype

Spinal Disc Disease. Evidence: 3/10. Source: PMID 17471097. ~1.3x Higher Risk.

Periodontitis. Evidence: 5/10. Source: PMID 31324923. Slightly Increased.

What GG Genotype Means

What this genotype means for the people who carry it

Sample genotype: GG (Homozygous)

Two copies of the major G allele are associated with standard, baseline levels of interleukin-1 alpha expression [1]. Because there is no genetically driven overproduction of this pro-inflammatory cytokine, the risk of inflammatory breakdown in the spinal discs remains at the typical population level [2]. Research indicates that a baseline genotype does not experience the elevated susceptibility to lumbar disc disease or intervertebral disc herniation seen in carriers of the minor allele [3]. Furthermore, this genetic profile is associated with a typical waist circumference and standard metabolic markers [4]. It represents the most common genetic profile globally, providing a stable baseline for joint, spinal, and metabolic health.

Baseline risk of spinal disc degeneration; Typical waist circumference.

What AA Genotype Means

Sample genotype: AA (Homozygous)

Two copies of the minor A allele are associated with significantly increased expression of the pro-inflammatory cytokine interleukin-1 alpha [1]. This heightened inflammatory state can accelerate the breakdown of the extracellular matrix within the spinal discs, leading to a much higher susceptibility to degeneration and herniation [2]. Studies have reported up to a 7.8-fold increase in the risk of intervertebral disc disease for this specific genetic profile [3]. Additionally, research has linked this homozygous variant to a larger average waist circumference, particularly in the presence of other inflammatory or metabolic factors [4]. Proactive measures to support spinal health, such as regular low-impact exercise and maintaining a healthy weight, are particularly relevant.

~7.8x higher risk of intervertebral disc disease; Larger average waist circumference; Elevated systemic inflammatory response.

What GA Genotype Means

Sample genotype: GA (Heterozygous)

A single copy of the minor A allele is linked to a modest increase in the production of the pro-inflammatory cytokine interleukin-1 alpha [1]. This slight elevation in local inflammation can gradually affect the structural integrity of the intervertebral discs, making them somewhat more vulnerable to wear and tear [2]. Clinical research indicates that a heterozygous genotype carries approximately a 1.3-fold higher risk of developing lumbar disc disease compared to the baseline genotype [3]. While this represents only a mild increase in risk, maintaining good posture, core strength, and spinal hygiene can be beneficial. Other metabolic markers, such as waist circumference, generally remain close to typical levels [4].

~1.3x higher risk of lumbar disc disease; Slightly elevated inflammatory response.

Related Variants

Variants with shared genetic architecture

rs17561 · IL1A Gene · Chr 2 · Inflammatory Response

rs10733682 · LMX1B Gene · Chr 9 · Body Mass Index

rs10849448 · LTBR Gene · Chr 12 · Respiratory Infection Risk

Sources

Interleukin-1 Genotype in Periodontitis.

Functional polymorphism of IL-1 alpha and its potential role in obesity in humans and mice.

Gender difference in genetic association between IL1A variant and early lumbar disc degeneration: a three-year follow-up.

The effect of interleukin-1alpha polymorphisms on bone mineral density and the risk of vertebral fractures.

Association of Interleukin-1 gene polymorphisms with central obesity and metabolic syndrome in a coronary heart disease population.

Occupational and genetic risk factors associated with intervertebral disc disease.

Interleukin-1 alpha and beta, TNF-alpha and HTTLPR gene variants study on alcohol toxicity and detoxification outcome.

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Content updated August 2026.

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