What you carry at this position in your DNA and what research says about it.
Inflammatory Disease Risk: 8/10 evidence, 56 publications.
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Sample genotype (not yours): A/A
Higher Risk of Inflammatory Conditions
A higher risk of Behçet's disease, mouth ulcers, and early pregnancy loss is associated with this profile.
What this genotype means: Higher risk of Behçet's disease and mouth ulcers; Threefold higher risk of early pregnancy loss; Slower metabolism of the transplant drug tacrolimus.
Sample genotype (not yours): A/G
Reduced Endometriosis Risk with Some Inflammatory Susceptibility
A 50% lower risk of endometriosis is paired with a higher risk of early pregnancy loss in this profile.
What this genotype means: 50% lower risk of endometriosis; Threefold higher risk of early pregnancy loss; Typical risk of Behçet's disease.
Sample genotype (not yours): G/G
Lower Risk of Inflammatory Conditions
A lower risk of Behçet's disease, endometriosis, and early pregnancy loss characterizes this profile.
What this genotype means: Lower risk of Behçet's disease and mouth ulcers; 50% lower risk of endometriosis; Typical, lower risk of early pregnancy loss.
Gene function and biological role
Gene Function: The IL10 gene encodes interleukin 10, a crucial anti-inflammatory cytokine that helps regulate the body's immune response [1]. It plays a key role in limiting the inflammatory response to pathogens, thereby protecting tissues from excessive damage [1]. Variations in this gene can alter the production levels of interleukin 10, shifting the balance between pro-inflammatory and anti-inflammatory signals [2]. This balance is critical in autoimmune diseases, chronic infections, and inflammatory disorders [2]. Consequently, genetic differences in IL10 are widely studied for their impact on susceptibility to inflammatory and immune-related conditions [2].
Variant Impact: Located in the promoter region of the IL10 gene, rs1800871 directly influences how much interleukin 10 protein is produced [1]. The G allele is associated with higher promoter activity and increased production of this anti-inflammatory cytokine [1]. Conversely, the A allele is linked to lower interleukin 10 levels, which can lead to a more active, pro-inflammatory state [1]. This functional difference affects susceptibility to several inflammatory conditions, including Behçet's disease and inflammatory bowel disease [2] [3].
Key Insight: Carrying the G allele acts like a natural brake on inflammation, reducing the risk of several autoimmune conditions and lowering the likelihood of early pregnancy loss.
Location: IL10. Chromosome 1 · 1q32.1 · 206.8 Mb
Origin Story: Selection for genetic variations that induce stronger pro-inflammatory responses has been documented in certain populations, such as in Ghana, where a more active immune response may have historically provided a survival advantage against severe environmental pathogens and infectious diseases.
Estimated prevalence by population
Global 11.0%; European 5.4%; African 16.9%; East Asian 46.9%; South Asian 19.0%; Americas 10.6%; Ashkenazi 6.3%; Finnish 5.0%; Middle Eastern 10.1%; Amish 8.6%.
Estimated AA genotype frequency.
Global 40.7%; European 35.6%; African 48.4%; East Asian 43.2%; South Asian 49.2%; Americas 43.9%; Ashkenazi 37.5%; Finnish 34.8%; Middle Eastern 43.4%; Amish 41.4%.
Estimated AG genotype frequency.
Global 48.3%; European 59.0%; African 34.7%; East Asian 9.9%; South Asian 31.8%; Americas 45.4%; Ashkenazi 56.2%; Finnish 60.2%; Middle Eastern 46.4%; Amish 50.0%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Immunity & Inflammation
Chronic Inflammatory Diseases
Behcet's Disease. Evidence: 4/10. Source: PMID 20622879. ~1.45x Increased Risk.
Endocrine & Reproductive
Female Reproductive Health & Fertility
Endometriosis. Evidence: 6/10. Typical Risk.
Pregnancy & Birth Complications
Pregnancy Loss. Evidence: 6/10. ~3x Increased Risk.
Pharmacogenomics
Immunosuppressant & Biologic Response
Tacrolimus Metabolism. Evidence: 5/10. Source: PMID 36408735. Slower Metabolism.
Organ Systems
Dental & Oral Health
Mouth Ulcers. Evidence: 8/10. Source: PMID 30837455. Increased Risk.
Showing effects for A/G genotype
Behcet's Disease. Evidence: 4/10. Source: PMID 20622879. Typical Risk.
Endometriosis. Evidence: 6/10. ~50% Lower Risk.
Tacrolimus Metabolism. Evidence: 5/10. Source: PMID 36408735. Typical Metabolism.
Mouth Ulcers. Evidence: 8/10. Source: PMID 30837455. Typical Risk.
Showing effects for G/G genotype
Behcet's Disease. Evidence: 4/10. Source: PMID 20622879. ~40% Lower Risk.
Pregnancy Loss. Evidence: 6/10. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Lower production of the anti-inflammatory cytokine interleukin 10 is characteristic of this genetic profile [1]. This reduction in the body's natural anti-inflammatory response can lead to heightened inflammation [1]. Consequently, this genotype is linked to a 1.45-fold increased risk of Behçet's disease, a rare inflammatory disorder [2]. It is also associated with a higher susceptibility to recurrent mouth ulcers [3]. Furthermore, research suggests that individuals with this genotype may have a threefold higher risk of early pregnancy loss compared to those with the G/G genotype. In a transplant setting, this genotype is associated with slower metabolism of tacrolimus, which may increase the risk of organ rejection [4].
Higher risk of Behçet's disease and mouth ulcers; Threefold higher risk of early pregnancy loss; Slower metabolism of the transplant drug tacrolimus.
Sample genotype: AG (Heterozygous)
Intermediate levels of interleukin 10 production are typically observed with this heterozygous profile. This genetic profile is associated with a 50% lower risk of developing endometriosis compared to the typical baseline. However, because the A allele is still present, individuals with this genotype may experience a threefold higher risk of early pregnancy loss compared to those with the G/G genotype. Susceptibility to other inflammatory conditions, such as Behçet's disease and mouth ulcers, is generally close to the population average. In pharmacogenomics, this genotype is associated with typical metabolism of the immunosuppressant drug tacrolimus. Overall, this genotype presents a mix of protective benefits and mild inflammatory risks.
50% lower risk of endometriosis; Threefold higher risk of early pregnancy loss; Typical risk of Behçet's disease.
Sample genotype: GG (Homozygous)
Higher promoter activity and increased production of the anti-inflammatory cytokine interleukin 10 are associated with this genetic profile [1]. This enhanced anti-inflammatory response helps protect the body against excessive tissue damage from inflammation [1]. As a result, individuals with this genotype have a 40% lower risk of developing Behçet's disease [2]. They also benefit from a 50% lower risk of endometriosis compared to those with the A/A genotype. Additionally, this genotype is associated with a typical, lower risk of early pregnancy loss, avoiding the threefold increase seen in A allele carriers. Response to the immunosuppressant drug tacrolimus is typical, with standard metabolism rates [3].
Lower risk of Behçet's disease and mouth ulcers; 50% lower risk of endometriosis; Typical, lower risk of early pregnancy loss.
Variants with shared genetic architecture
rs3024493 · IL10 Gene · Chr 1 · Ulcerative Colitis Risk
rs3024505 · IL10 Gene · Chr 1 · Autoimmune Disease Risk
rs1518111 · IL10 Gene · Chr 1 · Behçet's Disease Risk
Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.
Content updated August 2026.
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