What you carry at this position in your DNA and what research says about it.
Autoimmune and Asthma Risk: 6/10 evidence, 13 publications.
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Sample genotype (not yours): G/G
Higher Asthma Risk but Lower Autoimmune Risk
A typical genetic profile at this locus is associated with an increased susceptibility to asthma. However, this same profile offers a protective advantage against several common autoimmune conditions.
What this genotype means: Increased susceptibility to childhood-onset asthma; Lower risk of Crohn's disease and ulcerative colitis; Typical response to inhaled corticosteroids.
Sample genotype (not yours): A/A
Higher Risk for Autoimmune Conditions
A less common genetic profile is linked to an increased risk of several autoimmune diseases. Conversely, this profile provides significant protection against developing asthma.
What this genotype means: Elevated risk of Crohn's disease, ulcerative colitis, and rheumatoid arthritis; Lower susceptibility to childhood-onset asthma; Enhanced response to inhaled corticosteroids.
Sample genotype (not yours): G/A
Typical Risk for Asthma and Autoimmune Conditions
An intermediate genetic profile balances the risks of respiratory and autoimmune conditions. This genotype is also associated with an improved response to certain asthma medications.
What this genotype means: Typical baseline risk for asthma and autoimmune diseases; Improved therapeutic response to fluticasone propionate.
Gene function and biological role
Gene Function: The ORMDL3 and GSDMB genes are located in a highly studied region on chromosome 17q21 that plays a central role in immune regulation [1]. ORMDL3 encodes a transmembrane protein in the endoplasmic reticulum that regulates sphingolipid synthesis [2]. GSDMB belongs to the gasdermin family, which is involved in cellular membrane integrity and inflammatory cell death pathways [3]. Variations in this gene cluster are heavily linked to childhood-onset asthma and several autoimmune disorders [1]. Altered expression of these genes affects how the immune system responds to environmental triggers and self-antigens [2].
Variant Impact: The rs2872507 variant is an intergenic genetic marker located between the ZPBP2 and GSDMB genes on chromosome 17q21. This specific genetic change acts as a powerful expression quantitative trait locus, directly influencing the expression levels of ORMDL3 and GSDMB in various tissues [2]. Higher expression of these genes is strongly associated with airway remodeling and hyperresponsiveness in asthma [1]. Conversely, the same genetic variant has opposing effects on the risk of developing autoimmune diseases [4]. This makes the variant a classic example of genetic pleiotropy, where a single locus influences multiple seemingly unrelated clinical outcomes [4].
Key Insight: This genetic variant acts as an evolutionary trade-off, where the version that protects against asthma simultaneously increases the risk of multiple autoimmune diseases.
Location: ORMDL3. Chromosome 17 · 17q21.1 · 39.9 Mb
Estimated prevalence by population
Global 38.2%; European 30.1%; African 54.7%; East Asian 53.3%; South Asian 39.6%; Americas 37.1%; Ashkenazi 34.1%; Finnish 21.9%; Middle Eastern 41.8%; Amish 11.5%.
Estimated GG genotype frequency.
Global 45.8%; European 49.5%; African 38.5%; East Asian 39.4%; South Asian 46.7%; Americas 47.6%; Ashkenazi 48.6%; Finnish 49.8%; Middle Eastern 45.7%; Amish 44.8%.
Estimated GA genotype frequency.
Global 16.0%; European 20.4%; African 6.8%; East Asian 7.3%; South Asian 13.8%; Americas 15.3%; Ashkenazi 17.3%; Finnish 28.2%; Middle Eastern 12.5%; Amish 43.7%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Immunity & Inflammation
Chronic Inflammatory Diseases
Crohn's Disease. Evidence: 6/10. Source: PMID 18587394. Typical Risk.
Ulcerative Colitis. Evidence: 5/10. Source: PMID 21297633. Typical Risk.
Autoimmune Diseases
Rheumatoid Arthritis. Evidence: 6/10. Source: PMID 20453842. Typical Risk.
Organ Systems
Respiratory Health
Asthma. Evidence: 6/10. Source: PMID 22694930. Increased Risk.
Asthma Drug Response. Evidence: 5/10. Source: PMID 22986918. Typical Response.
Showing effects for A/A genotype
Crohn's Disease. Evidence: 6/10. Source: PMID 18587394. ~1.3x Risk.
Ulcerative Colitis. Evidence: 5/10. Source: PMID 21297633. ~1.32x Risk.
Rheumatoid Arthritis. Evidence: 6/10. Source: PMID 20453842. ~1.19x Risk.
Asthma. Evidence: 6/10. Source: PMID 22694930. Lower Risk.
Asthma Drug Response. Evidence: 5/10. Source: PMID 22986918. Stronger Response.
Showing effects for G/A genotype
Crohn's Disease. Evidence: 6/10. Source: PMID 18587394. ~1.14x Risk.
Ulcerative Colitis. Evidence: 5/10. Source: PMID 21297633. ~1.15x Risk.
Rheumatoid Arthritis. Evidence: 6/10. Source: PMID 20453842. ~1.09x Risk.
Asthma. Evidence: 6/10. Source: PMID 22694930. Slightly Lower Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Having two copies of the G allele is associated with a higher risk of developing asthma, particularly during childhood [1]. This genetic setup is linked to increased expression of the ORMDL3 and GSDMB genes, which can promote airway inflammation and structural remodeling in the lungs [2]. On the positive side, this genotype is associated with a lower risk of developing autoimmune diseases such as Crohn's disease, ulcerative colitis, and rheumatoid arthritis [3]. Research indicates that the biological pathways driving asthma susceptibility at this locus are distinct from, and often opposite to, those driving autoimmunity [1]. Additionally, children with asthma who carry this genotype may show a more typical, less pronounced response to inhaled corticosteroid treatments like fluticasone propionate [2]. Maintaining good lung health and avoiding environmental triggers like tobacco smoke is especially beneficial for individuals with this profile.
Increased susceptibility to childhood-onset asthma; Lower risk of Crohn's disease and ulcerative colitis; Typical response to inhaled corticosteroids.
Sample genotype: AA (Homozygous)
Having two copies of the A allele is associated with an increased susceptibility to autoimmune disorders, including Crohn's disease, ulcerative colitis, and rheumatoid arthritis [1]. This genetic variation influences immune cell tolerance, potentially making the body more prone to attacking its own tissues [2]. However, this genotype is highly protective against childhood-onset asthma, representing a clear evolutionary trade-off [3]. If asthma does occur, individuals with this profile are shown to have a significantly better therapeutic response to inhaled fluticasone propionate [4]. The opposing risks of asthma and autoimmunity at this locus demonstrate the complex balance of the human immune system [3]. Proactive lifestyle choices, such as a balanced diet and regular medical checkups, can help manage the elevated autoimmune risks associated with this profile.
Elevated risk of Crohn's disease, ulcerative colitis, and rheumatoid arthritis; Lower susceptibility to childhood-onset asthma; Enhanced response to inhaled corticosteroids.
Sample genotype: GA (Heterozygous)
Carrying one copy of each allele results in a balanced genetic influence on both respiratory and autoimmune health. This intermediate profile is associated with a moderate, typical risk for asthma compared to the general population [1]. Similarly, the risk for autoimmune conditions such as Crohn's disease, ulcerative colitis, and rheumatoid arthritis remains close to average [2]. Interestingly, clinical studies have shown that individuals with this genotype who have asthma tend to respond better to inhaled corticosteroid treatments, specifically fluticasone propionate [3]. This enhanced drug response can make asthma management more effective if the condition develops [3]. The balanced nature of this genotype highlights how genetic variations can have offsetting effects across different body systems [1]. Overall, this profile does not strongly predispose an individual to one specific health direction over another.
Typical baseline risk for asthma and autoimmune diseases; Improved therapeutic response to fluticasone propionate.
Variants with shared genetic architecture
rs8076131 · ORMDL3 Gene · Chr 17 · Asthma Risk
rs17293632 · SMAD3 Gene · Chr 15 · Inflammatory Disease Risk
rs12720356 · TYK2 Gene · Chr 19 · Autoimmune Disease Risk
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Content updated August 2026.
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