What you carry at this position in your DNA and what research says about it.
Inflammatory Disease Risk: 8/10 evidence, 13 publications.
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Sample genotype (not yours): C/C
Higher Risk of Inflammatory Bowel Disease
Carrying two copies of the C allele is associated with an elevated risk of gut-related inflammatory conditions. Conversely, this genotype provides a typical, non-elevated risk profile for autoimmune thyroid issues.
What this genotype means: Increased susceptibility to inflammatory bowel disease; Higher risk of developing Crohn's disease; Typical baseline risk for Graves' disease.
Sample genotype (not yours): A/A
Higher Graves' Risk but Lower Gut Inflammation Risk
Carrying two copies of the A allele increases susceptibility to Graves' disease and Kawasaki disease. However, this genotype offers protection against inflammatory bowel diseases.
What this genotype means: Increased risk of developing Graves' disease; Higher susceptibility to Kawasaki disease; Lower risk of inflammatory bowel disease.
Sample genotype (not yours): C/A
Typical Inflammatory Risk Profile
Carrying one copy of each allele results in an intermediate genetic profile. This balances the risks of different autoimmune and inflammatory conditions near population averages.
What this genotype means: Intermediate risk for inflammatory bowel disease; Typical baseline risk for Graves' disease; Balanced immune signaling profile.
Gene function and biological role
Gene Function: The CD40 gene encodes a vital cell-surface receptor belonging to the tumor necrosis factor receptor superfamily [1]. It is expressed on various immune cells, including B cells, dendritic cells, and macrophages, where it plays a central role in mediating adaptive immune responses [1]. Interaction between CD40 and its ligand is essential for immune cell activation, antibody production, and cytokine secretion [1]. Because of its potent role in driving inflammatory pathways, variations in this gene are heavily linked to susceptibility to diverse autoimmune and inflammatory disorders [2].
Variant Impact: The rs1569723 variant is an intergenic genetic marker located near the CD40 gene on chromosome 20 [1]. This genetic variation is thought to influence the expression levels of the CD40 receptor, thereby altering the threshold for immune system activation [1]. Depending on which allele is inherited, this variant can shift the balance of the immune system, predisposing individuals to different types of inflammatory conditions [3]. Specifically, the C allele is associated with a higher risk of gut-related inflammation, whereas the A allele is linked to thyroid and systemic inflammatory responses [3].
Key Insight: This variant acts as an immunological pivot, where carrying one allele increases the risk of inflammatory bowel diseases while lowering the risk of autoimmune thyroid conditions, and vice versa.
Location: CD40. Chromosome 20 · 20q13.12 · 46.1 Mb
Estimated prevalence by population
Global 5.2%; European 6.6%; African 0.4%; East Asian 18.8%; South Asian 6.9%; Americas 5.0%; Ashkenazi 7.3%; Finnish 7.7%; Middle Eastern 7.8%; Amish 5.7%.
Estimated CC genotype frequency.
Global 31.0%; European 38.2%; African 11.4%; East Asian 49.1%; South Asian 38.8%; Americas 34.8%; Ashkenazi 39.4%; Finnish 40.1%; Middle Eastern 40.2%; Amish 36.4%.
Estimated CA genotype frequency.
Global 63.7%; European 55.2%; African 88.2%; East Asian 32.1%; South Asian 54.2%; Americas 60.2%; Ashkenazi 53.3%; Finnish 52.2%; Middle Eastern 52.0%; Amish 57.9%.
Estimated AA genotype frequency.
Showing effects for C/C genotype
Immunity & Inflammation
Chronic Inflammatory Diseases
Inflammatory Bowel Disease. Evidence: 8/10. Source: PMID 23128233. ~1.2x Risk.
Crohn's Disease. Evidence: 7/10. Source: PMID 28067908. Increased Risk.
Kawasaki Disease. Evidence: 4/10. Source: PMID 22446961. Typical Risk.
Autoimmune Diseases
Graves' Disease. Evidence: 7/10. Source: PMID 32514122. Typical Risk.
Neurology & Mental Health
Mood Disorders
Bipolar Disorder. Evidence: 6/10. Source: PMID 38154582. Increased Risk.
Cognitive Performance
Mathematical Ability. Evidence: 6/10. Source: PMID 30038396. Typical.
Showing effects for A/A genotype
Inflammatory Bowel Disease. Evidence: 8/10. Source: PMID 23128233. Typical Risk.
Crohn's Disease. Evidence: 7/10. Source: PMID 28067908. Typical Risk.
Kawasaki Disease. Evidence: 4/10. Source: PMID 22446961. ~1.4x Risk.
Graves' Disease. Evidence: 7/10. Source: PMID 32514122. ~1.2x Risk.
Bipolar Disorder. Evidence: 6/10. Source: PMID 38154582. Typical Risk.
Mathematical Ability. Evidence: 6/10. Source: PMID 30038396. Increased.
Showing effects for C/A genotype
Inflammatory Bowel Disease. Evidence: 8/10. Source: PMID 23128233. Slightly Increased.
Crohn's Disease. Evidence: 7/10. Source: PMID 28067908. Slightly Increased.
Kawasaki Disease. Evidence: 4/10. Source: PMID 22446961. Slightly Increased.
Graves' Disease. Evidence: 7/10. Source: PMID 32514122. Slightly Increased.
Bipolar Disorder. Evidence: 6/10. Source: PMID 38154582. Slightly Increased.
Mathematical Ability. Evidence: 6/10. Source: PMID 30038396. Slightly Increased.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Inheriting two copies of the C allele significantly influences immune system regulation through the CD40 pathway [1]. Large-scale genetic studies show that this genotype is linked to an increased susceptibility to inflammatory bowel disease and Crohn's disease [2]. The C allele appears to promote inflammatory signaling in the gastrointestinal tract, making the gut lining more vulnerable to chronic immune activation [2]. Interestingly, this same genetic profile keeps the risk of Graves' disease and Kawasaki disease at typical baseline levels [3]. Additionally, some research suggests a modest correlation between this genotype and an increased risk of bipolar disorder, potentially due to shared neuroinflammatory pathways [2].
Increased susceptibility to inflammatory bowel disease; Higher risk of developing Crohn's disease; Typical baseline risk for Graves' disease.
Sample genotype: AA (Homozygous)
Inheriting two copies of the A allele shifts the immune system's inflammatory profile away from gut-related issues and toward systemic and thyroid-related conditions [1]. Clinical studies demonstrate that this genotype is associated with an increased risk of Graves' disease, an autoimmune condition affecting the thyroid [2]. It is also linked to a higher susceptibility to Kawasaki disease, a rare inflammatory condition affecting blood vessels [3]. On the positive side, this genetic profile is highly protective against inflammatory bowel disease and Crohn's disease, keeping gut-related inflammation risks at baseline [1]. Furthermore, large-scale behavioral genetics research has noted a minor positive association between this genotype and higher mathematical performance [4].
Increased risk of developing Graves' disease; Higher susceptibility to Kawasaki disease; Lower risk of inflammatory bowel disease.
Sample genotype: CA (Heterozygous)
Having a heterozygous genotype means inheriting one C allele and one A allele, which generally results in intermediate immune signaling [1]. This balanced genetic makeup means risks for both gut-related inflammation and thyroid-related autoimmune conditions remain close to typical population averages [2]. While there is a very slight increase in susceptibility to both inflammatory bowel disease and Graves' disease compared to the respective protective genotypes, the overall impact is highly moderated. This genotype represents a common middle ground where the immune system does not strongly lean toward either extreme of the CD40-mediated inflammatory spectrum [1].
Intermediate risk for inflammatory bowel disease; Typical baseline risk for Graves' disease; Balanced immune signaling profile.
Variants with shared genetic architecture
rs1883832 · CD40 Gene · Chr 20 · Autoimmune Disease Risk
rs4810485 · CD40 Gene · Chr 20 · Rheumatoid Arthritis Risk
rs6074022 · CD40 Gene · Chr 20 · Autoimmune Disease Risk
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Content updated August 2026.
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