What you carry at this position in your DNA and what research says about it.
Inflammation and Disease Risk: 4/10 evidence, 12 publications.
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Sample genotype (not yours): A/A
Lower Prostate Cancer Risk but Higher Autism Susceptibility
Two copies of the rare A allele present a complex health profile. This genetic makeup is linked to a lower risk of aggressive prostate cancer, alongside a higher susceptibility to autism and respiratory issues.
What this genotype means: Lower risk of aggressive prostate cancer; Increased susceptibility to autism spectrum disorders; Higher risk of chronic obstructive pulmonary disease.
Sample genotype (not yours): A/G
Increased Susceptibility to Autism and COPD
One copy of the A allele is associated with elevated risks for certain inflammatory and neurodevelopmental conditions. However, it also offers a protective effect against aggressive prostate cancer.
What this genotype means: Slightly lower risk of aggressive prostate cancer; Increased susceptibility to autism spectrum disorders; Elevated risk of chronic obstructive pulmonary disease.
Sample genotype (not yours): G/G
Typical Risk of Autism and COPD
Two copies of the common G allele represent the typical baseline for inflammatory response. This genotype is associated with standard risks for neurodevelopmental, respiratory, and prostate conditions.
What this genotype means: Typical baseline risk of autism spectrum disorders; Standard risk of chronic obstructive pulmonary disease; Typical baseline risk of prostate cancer.
Gene function and biological role
Gene Function: The PTGS2 gene encodes cyclooxygenase-2 (COX-2), a key enzyme that catalyzes the conversion of arachidonic acid into prostaglandins. These lipid compounds are critical mediators of the body's inflammatory response, regulating pain, fever, and swelling. While COX-1 is active under normal conditions to protect organs like the stomach, COX-2 is highly inducible and spikes during tissue injury or immune activation. Chronic overactivation of COX-2-driven pathways is linked to inflammatory disorders, cardiovascular disease, and various cancers.
Variant Impact: The rs2745557 variant is an intronic change located within the PTGS2 gene. This genetic variation is thought to modulate the expression levels of the COX-2 enzyme, thereby altering the baseline production of inflammatory prostaglandins. Changes in COX-2 activity can influence systemic inflammation, affecting susceptibility to inflammatory conditions and certain cancers.
Key Insight: The same genetic variant that increases susceptibility to developmental and respiratory conditions may offer protection against aggressive prostate cancer.
Location: PTGS2. Chromosome 1 · 1q31.1 · 186.7 Mb
Estimated prevalence by population
Global 2.9%; European 3.2%; African 2.3%; East Asian 0.1%; South Asian 4.5%; Americas 2.2%; Ashkenazi 6.1%; Finnish 3.0%; Middle Eastern 12.3%; Amish 3.9%.
Estimated AA genotype frequency.
Global 27.5%; European 29.3%; African 25.7%; East Asian 6.9%; South Asian 33.5%; Americas 25.3%; Ashkenazi 37.1%; Finnish 28.7%; Middle Eastern 45.5%; Amish 31.7%.
Estimated AG genotype frequency.
Global 69.6%; European 67.6%; African 72.0%; East Asian 93.0%; South Asian 62.0%; Americas 72.5%; Ashkenazi 56.8%; Finnish 68.2%; Middle Eastern 42.2%; Amish 64.4%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Neurology & Mental Health
Neurodevelopmental Traits
Autism Susceptibility. Evidence: 3/10. Source: PMID 18579107. Increased Risk.
Cancer & Oncology
Prostate Cancer
Prostate Cancer. Evidence: 4/10. Source: PMID 19318492. Lower Risk.
Organ Systems
Respiratory Health
COPD. Evidence: 3/10. Source: PMID 18579107. Increased Risk.
Showing effects for A/G genotype
Showing effects for G/G genotype
Autism Susceptibility. Evidence: 3/10. Source: PMID 18579107. Typical Risk.
Prostate Cancer. Evidence: 4/10. Source: PMID 19318492. Typical Risk.
COPD. Evidence: 3/10. Source: PMID 18579107. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Inheriting two copies of the A allele significantly alters the baseline inflammatory response mediated by the COX-2 enzyme. Research indicates that this genetic profile is associated with a higher transmission rate in families with autism spectrum disorders. Additionally, altered prostaglandin levels from this variant are linked to an increased risk of developing chronic obstructive pulmonary disease (COPD). Conversely, this exact same reduction or shift in COX-2 activity appears to be protective against prostate tissue inflammation, resulting in a lower risk of aggressive prostate cancer. Managing systemic inflammation through diet and lifestyle may help balance these risks.
Lower risk of aggressive prostate cancer; Increased susceptibility to autism spectrum disorders; Higher risk of chronic obstructive pulmonary disease.
Sample genotype: AG (Heterozygous)
Carrying a single copy of the A allele influences how the body regulates inflammatory pathways. Studies have identified a preferential transmission of the A allele in children diagnosed with autism spectrum disorders. This variant also correlates with altered cytokine levels, which may elevate the risk of respiratory conditions like chronic obstructive pulmonary disease. On the positive side, the presence of the A allele is associated with a lower risk of aggressive prostate cancer, particularly in Caucasian populations. Maintaining a balanced, anti-inflammatory lifestyle can support overall health.
Slightly lower risk of aggressive prostate cancer; Increased susceptibility to autism spectrum disorders; Elevated risk of chronic obstructive pulmonary disease.
Sample genotype: GG (Homozygous)
Possessing the common G/G genotype means the COX-2 enzyme functions at standard baseline levels. This genetic profile does not carry the elevated risk of autism spectrum disorders observed with the minor A allele. Similarly, respiratory health remains at typical baseline levels without the increased susceptibility to chronic obstructive pulmonary disease. However, this genotype lacks the protective effect against aggressive prostate cancer that is associated with the A allele.
Typical baseline risk of autism spectrum disorders; Standard risk of chronic obstructive pulmonary disease; Typical baseline risk of prostate cancer.
Variants with shared genetic architecture
rs20417 · PTGS2 Gene · Chr 1 · Heart and Joint Health
rs5275 · PTGS2 Gene · Chr 1 · Cancer and Stroke Risk
rs5277 · PTGS2 Gene · Chr 1 · Pain Sensitivity
Content updated August 2026.
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