What you carry at this position in your DNA and what research says about it.
Osteoarthritis Risk: 5/10 evidence, 53 publications.
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Sample genotype (not yours): A/A
Higher Osteoarthritis Risk
This genotype is associated with a significantly increased risk of developing osteoarthritis, particularly in the knees and hips. However, it may offer a lower risk of certain mental health conditions compared to other genotypes.
What this genotype means: Significantly higher risk of joint cartilage wear; Better response to acid reflux medications; Lower baseline risk for certain mental health conditions.
Sample genotype (not yours): A/G
Moderate Joint and Mental Health Risks
This genotype carries a moderately increased risk for both osteoarthritis and certain mental health conditions. It is also linked to a better response to acid reflux medications but a higher risk of antipsychotic-induced weight gain.
What this genotype means: Moderately elevated risk of osteoarthritis; Slightly increased susceptibility to mental health conditions; Higher risk of weight gain when taking antipsychotics.
Sample genotype (not yours): G/G
Higher Mental Health Risk
This genotype is linked to an increased risk of certain mental health conditions, including schizophrenia and depression, and a lower rate of antidepressant remission. Conversely, it is associated with a lower risk of osteoarthritis.
What this genotype means: Increased risk of schizophrenia and depression; Lower likelihood of achieving depression remission; Typical baseline risk of osteoarthritis.
Gene function and biological role
Gene Function: Interleukin 1 beta, encoded by the IL1B gene, is a pivotal pro-inflammatory cytokine that orchestrates the body's immune response to injury and infection [1]. It plays a central role in joint inflammation, pain signaling, and the activation of immune cells [2]. Overproduction of this cytokine can lead to chronic inflammatory states, contributing to tissue destruction in conditions like osteoarthritis [3]. Conversely, balanced interleukin-1 beta activity is crucial for neuroplasticity and brain function [4].
Variant Impact: The rs16944 variant is located in the promoter region of the IL1B gene, where it directly influences how the gene is transcribed and expressed [5]. This single nucleotide change alters the baseline production of interleukin-1 beta, leading to differences in systemic and localized inflammation [1]. Higher expression levels are associated with joint cartilage degradation and increased susceptibility to osteoarthritis [2]. At the same time, altered cytokine levels in the brain affect prefrontal cortex function and neurodevelopmental pathways [4].
Key Insight: This variant acts as a genetic trade-off, where the allele that increases osteoarthritis risk actually lowers the risk of certain mental health conditions, and vice versa.
Location: IL1B. Chromosome 2 · 2q14.1 · 112.8 Mb
Estimated prevalence by population
Global 19.2%; European 11.2%; African 29.6%; East Asian 21.4%; South Asian 35.4%; Americas 25.1%; Ashkenazi 12.1%; Finnish 16.2%; Middle Eastern 11.0%; Amish 7.0%.
Estimated AA genotype frequency.
Global 47.0%; European 44.5%; African 49.6%; East Asian 49.7%; South Asian 48.2%; Americas 50.0%; Ashkenazi 45.4%; Finnish 48.1%; Middle Eastern 44.4%; Amish 38.9%.
Estimated AG genotype frequency.
Global 33.8%; European 44.4%; African 20.8%; East Asian 28.9%; South Asian 16.4%; Americas 24.9%; Ashkenazi 42.4%; Finnish 35.6%; Middle Eastern 44.6%; Amish 54.1%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Organ Systems
Bone, Joint & Connective Tissue Health
Osteoarthritis. Evidence: 3/10. Source: PMID 23216199. ~3x Increased Risk.
Digestive & Gut Disorders
Acid Reflux Drug Response. Evidence: 5/10. Source: PMID 16815316. Stronger Response.
Neurology & Mental Health
Mood Disorders
Mental Health Risk. Evidence: 3/10. Source: PMID 22763186. Typical Risk.
Pharmacogenomics
Antidepressant & Psychiatric Drug Response
Antipsychotic Weight Gain. Evidence: 5/10. Source: PMID 25560300. Typical Risk.
Immunity & Inflammation
Inflammatory & Circulating Protein Markers
IL-1 Beta Levels. Evidence: 4/10. Source: PMID 30206230. Altered Levels.
Showing effects for A/G genotype
Osteoarthritis. Evidence: 3/10. Source: PMID 23216199. ~1.8x Increased Risk.
Mental Health Risk. Evidence: 3/10. Source: PMID 22763186. Slightly Increased.
Antipsychotic Weight Gain. Evidence: 5/10. Source: PMID 25560300. Increased Risk.
Showing effects for G/G genotype
Osteoarthritis. Evidence: 3/10. Source: PMID 23216199. Typical Risk.
Acid Reflux Drug Response. Evidence: 5/10. Source: PMID 16815316. Typical Response.
Mental Health Risk. Evidence: 3/10. Source: PMID 22763186. Increased Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Homozygosity for the A allele is strongly linked to an elevated risk of developing osteoarthritis, particularly in the knees and hips [1]. Research indicates that this genetic profile leads to higher localized inflammatory responses in joint tissues, accelerating cartilage breakdown [2]. Interestingly, this same inflammatory profile appears to be protective against certain psychiatric conditions, resulting in a typical risk for schizophrenia and depression [3]. When treating Helicobacter pylori infections, individuals with this genotype show a significantly better response to proton pump inhibitor triple therapy [4]. However, managing overall systemic inflammation through diet and lifestyle remains highly beneficial for joint preservation [5].
Significantly higher risk of joint cartilage wear; Better response to acid reflux medications; Lower baseline risk for certain mental health conditions.
Sample genotype: AG (Heterozygous)
Carrying one copy of each allele results in a moderate increase in susceptibility to both osteoarthritis and certain mental health conditions [1]. Joint tissues may experience intermediate levels of inflammation, leading to a moderately elevated risk of cartilage wear over time [2]. In psychiatric contexts, this genotype is associated with a slightly higher risk of conditions like schizophrenia and a reduced likelihood of depression remission [3]. On the pharmacological side, there is a better response rate to proton pump inhibitors used for acid reflux and ulcer treatment [4]. However, there is also an increased risk of experiencing significant weight gain when prescribed certain antipsychotic medications [5].
Moderately elevated risk of osteoarthritis; Slightly increased susceptibility to mental health conditions; Higher risk of weight gain when taking antipsychotics.
Sample genotype: GG (Homozygous)
Homozygosity for the G allele is associated with an increased risk of several mental health conditions, including schizophrenia and major depressive disorder [1]. Studies have linked this genotype to reduced gray matter volume in key brain regions and altered prefrontal cortex activity [1]. Furthermore, individuals with this genetic profile may experience more difficulty achieving remission during standard antidepressant therapy [2]. On the positive side, this genotype appears to be highly protective against osteoarthritis, showing a typical baseline risk for joint degeneration [3]. Response rates to proton pump inhibitors for acid reflux are also typical, without the enhanced clearance seen in A-allele carriers [4].
Increased risk of schizophrenia and depression; Lower likelihood of achieving depression remission; Typical baseline risk of osteoarthritis.
Variants with shared genetic architecture
rs1143627 · IL1B Gene · Chr 2 · Inflammatory Response and Cancer Risk
rs1143634 · IL1B Gene · Chr 2 · Inflammatory Response
rs1143633 · IL1B Gene · Chr 2 · Allergy and Joint Health
Content updated August 2026.
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