What you carry at this position in your DNA and what research says about it.
Inflammatory Response and Cancer Risk: 5/10 evidence, 40 publications.
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Sample genotype (not yours): G/G
Typical Inflammatory Response and Lower Disease Risks
An ancestral genetic profile is associated with baseline interleukin-1 beta levels and typical inflammatory responses. This configuration helps avoid the elevated risks of gastric cancer and tuberculosis linked to the variant allele. However, it may correlate with a less optimal response to certain biologic therapies if they are ever prescribed.
What this genotype means: Lower risk of gastric cancer; Lower susceptibility to tuberculosis; Lower risk of keratoconus.
Sample genotype (not yours): A/A
Highest Inflammatory Response and Elevated Disease Risks
Two copies of the variant A allele lead to the highest levels of interleukin-1 beta expression. This profile is associated with significantly increased risks of gastric cancer, tuberculosis, and keratoconus. Conversely, it may correlate with a more favorable response to certain biologic treatments.
What this genotype means: Highest risk of gastric cancer; Highest susceptibility to tuberculosis; Highest risk of keratoconus.
Sample genotype (not yours): G/A
Elevated Inflammatory Response and Higher Disease Risks
Carrying one copy of the variant A allele is associated with increased production of interleukin-1 beta. This genetic setup is linked to higher risks of gastric cancer, tuberculosis, and corneal thinning. It also influences how the body responds to specific biologic medications.
What this genotype means: Increased risk of gastric cancer; Higher susceptibility to tuberculosis; Increased risk of keratoconus.
Gene function and biological role
Gene Function: The IL1B gene encodes interleukin-1 beta, a pivotal pro-inflammatory cytokine that orchestrates the body's immune and inflammatory responses [1]. This protein is produced primarily by activated macrophages and is essential for defending against infections, initiating fever, and recruiting immune cells to sites of injury [1] [2]. However, tightly regulating its production is critical, as excessive or prolonged interleukin-1 beta activity can drive chronic inflammation and tissue damage [2] [3]. Genetic variations that alter the expression of this gene are frequently linked to inflammatory disorders, autoimmune diseases, and susceptibility to certain cancers [3] [4].
Variant Impact: The rs1143627 variant is located in the promoter region of the IL1B gene, where it directly influences how the gene is transcribed into protein [1]. This single nucleotide change alters a binding site for the TATA-binding protein, with the A allele creating a highly active canonical TATA box [1] [2]. Consequently, the A allele is associated with increased promoter activity and higher production of interleukin-1 beta under inflammatory stimulation [2]. This elevated cytokine level can amplify inflammatory responses, affecting susceptibility to gastric malignancies, infectious diseases, and corneal conditions [3] [5].
Key Insight: The A allele of this variant turns a weak promoter sequence into a highly active canonical TATA box, significantly boosting the production of inflammatory cytokines.
Location: IL1B. Chromosome 2 · 2q14.1 · 112.8 Mb
Estimated prevalence by population
Global 21.1%; European 11.2%; African 36.4%; East Asian 22.1%; South Asian 35.5%; Americas 25.6%; Ashkenazi 12.1%; Finnish 16.3%; Middle Eastern 11.6%; Amish 7.0%.
Estimated GG genotype frequency.
Global 46.5%; European 44.5%; African 47.8%; East Asian 49.8%; South Asian 48.2%; Americas 50.0%; Ashkenazi 45.4%; Finnish 48.1%; Middle Eastern 44.9%; Amish 38.9%.
Estimated GA genotype frequency.
Global 32.3%; European 44.3%; African 15.7%; East Asian 28.1%; South Asian 16.3%; Americas 24.4%; Ashkenazi 42.5%; Finnish 35.6%; Middle Eastern 43.5%; Amish 54.1%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cancer & Oncology
Gastrointestinal Cancers
Gastric Cancer. Evidence: 4/10. Source: PMID 10746728. Typical Risk.
Immunity & Inflammation
Infection Susceptibility & Resistance
Tuberculosis. Evidence: 3/10. Source: PMID 25329476. Typical Risk.
Organ Systems
Vision & Eye Health
Keratoconus. Evidence: 3/10. Source: PMID 23592922. Typical Risk.
Pharmacogenomics
Immunosuppressant & Biologic Response
Biologic Drug Response. Evidence: 5/10. Source: PMID 28696418. Poorer Response.
Showing effects for A/A genotype
Gastric Cancer. Evidence: 4/10. Source: PMID 10746728. Increased Risk.
Tuberculosis. Evidence: 3/10. Source: PMID 25329476. Increased Risk.
Keratoconus. Evidence: 3/10. Source: PMID 23592922. Increased Risk.
Biologic Drug Response. Evidence: 5/10. Source: PMID 28696418. Typical Response.
Showing effects for G/A genotype
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Maintaining baseline cytokine expression helps protect the stomach lining from chronic, pathogen-induced inflammation [1]. Research indicates that this genotype is associated with a lower risk of developing gastric cancer, particularly in the context of Helicobacter pylori infections [1] [2]. Additionally, typical levels of interleukin-1 beta support a balanced immune defense, which is linked to lower susceptibility to tuberculosis [3]. The risk of developing keratoconus, a progressive thinning of the cornea, is also significantly lower compared to variant carriers [4]. While highly protective against these inflammatory conditions, clinical studies suggest that individuals with this genotype may experience a poorer response to tumor necrosis factor inhibitors and ustekinumab when treating autoimmune conditions like psoriasis [5]. This reduced drug efficacy highlights the complex trade-offs inherent in cytokine regulation. Overall, this profile represents a highly favorable baseline for general inflammatory health.
Lower risk of gastric cancer; Lower susceptibility to tuberculosis; Lower risk of keratoconus.
Sample genotype: AA (Homozygous)
Having two copies of the variant allele creates a highly active promoter that maximizes the expression of pro-inflammatory cytokines [1]. This persistent inflammatory environment is strongly associated with an increased risk of gastric cancer, driven by chronic irritation of the stomach lining [1] [2]. The excessive cytokine levels also compromise the body's ability to control Mycobacterium tuberculosis, leading to higher tuberculosis susceptibility [3]. Additionally, the risk of keratoconus is elevated due to inflammatory processes that weaken corneal structure [4]. On the therapeutic side, this genotype does not carry the poorer response to TNF-alpha inhibitors and ustekinumab seen in G-allele carriers, potentially offering a better outlook for these biologic treatments [5]. This difference in drug response underscores the importance of personalized medicine in managing inflammatory diseases. Proactive health strategies focusing on anti-inflammatory habits and routine screenings are highly recommended for individuals with this profile.
Highest risk of gastric cancer; Highest susceptibility to tuberculosis; Highest risk of keratoconus.
Sample genotype: GA (Heterozygous)
A single copy of the variant allele alters the promoter region of the IL1B gene, leading to heightened cytokine production during immune challenges [1]. This elevated inflammatory state is recognized as a dominant risk factor for gastric cancer, especially when Helicobacter pylori bacteria are present [1] [2]. The heightened immune response also paradoxically increases susceptibility to active tuberculosis infections by altering cellular defense mechanisms [3]. Furthermore, increased local inflammation in the eye is associated with a higher risk of keratoconus [4]. In the context of autoimmune treatment, this genetic profile is linked to a poorer therapeutic response to tumor necrosis factor inhibitors and ustekinumab [5]. These findings suggest that standard biologic therapies may be less effective for individuals carrying this variant. Managing chronic inflammation through lifestyle and regular medical checkups can help mitigate these genetically elevated risks.
Increased risk of gastric cancer; Higher susceptibility to tuberculosis; Increased risk of keratoconus.
Variants with shared genetic architecture
rs1143634 · IL1B Gene · Chr 2 · Inflammatory Response
rs16944 · IL1B Gene · Chr 2 · Osteoarthritis Risk
rs1143633 · IL1B Gene · Chr 2 · Allergy and Joint Health
Interleukin-1 polymorphisms associated with increased risk of gastric cancer.
Interleukin 1 beta promoter polymorphism is associated with keratoconus in a Japanese population.
Interleukin 1 polymorphisms, lifestyle factors, and Helicobacter pylori infection.
Content updated August 2026.
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