ReadYourDNA

rs4073 (CXCL8)

What you carry at this position in your DNA and what research says about it.

Inflammatory Disease Risk: 6/10 evidence, 56 publications.

You're viewing every possible genotype for this variant.

None of these is your result. Use the genotype toggle to compare them, then sign up and upload your DNA to see which one is yours.

Sample genotype (not yours): A/A

Higher Inflammatory Response and Disease Risks

Elevated production of the pro-inflammatory protein interleukin-8 characterizes this genetic profile. It is linked to an earlier onset of macular degeneration and higher risks of chronic inflammatory conditions.

What this genotype means: Higher production of pro-inflammatory interleukin-8; Earlier onset of age-related macular degeneration; Poorer response to certain anti-VEGF therapies.

Sample genotype (not yours): A/T

Moderately Higher Inflammatory Response and Risks

Moderately increased interleukin-8 production is associated with this genetic profile. This can lead to elevated risks for inflammatory diseases and altered responses to certain medications.

What this genotype means: Moderately elevated interleukin-8 levels; Slightly increased risk of chronic periodontitis; Altered response to anti-VEGF treatments.

Sample genotype (not yours): T/T

Typical Inflammatory Response and Lower Disease Risks

Lower, more controlled production of the interleukin-8 protein is associated with this genetic profile. It is linked to a typical onset of macular degeneration and lower risks of chronic inflammatory conditions.

What this genotype means: Controlled, typical levels of interleukin-8; Typical onset of age-related macular degeneration; Better response to anti-VEGF therapies.

About CXCL8

Gene function and biological role

Gene Function: The CXCL8 gene encodes interleukin-8 (IL-8), a major pro-inflammatory chemokine [1]. This protein acts as a powerful chemical signal that recruits and activates white blood cells, particularly neutrophils, to sites of infection or injury [1]. By promoting the growth of new blood vessels, IL-8 also plays a critical role in angiogenesis and tissue repair [2]. However, excessive or chronic production of IL-8 can drive persistent inflammation, contributing to tissue damage and various inflammatory diseases [2].

Variant Impact: A single nucleotide change located in the promoter region of the CXCL8 gene defines rs4073, often referred to in scientific literature as the -251T>A polymorphism [2]. This genetic change directly influences how actively the gene is transcribed into protein [2]. The A allele is associated with significantly higher promoter activity and increased production of the pro-inflammatory IL-8 protein [3]. Consequently, carrying this allele can lead to a more intense inflammatory response, which has been linked to elevated risks for several chronic inflammatory conditions and altered responses to specific medical treatments [3].

Key Insight: The A allele of this variant acts like a volume booster for inflammation, causing cells to produce significantly more interleukin-8 protein when stimulated. Carrying the A allele not only influences susceptibility to inflammatory diseases but can also predict how well a person responds to advanced cancer and vision therapies.

Location: CXCL8. Chromosome 4 · 4q13.3 · 73.7 Mb

Genotype Frequencies

Estimated prevalence by population

Global 30.8%; European 20.8%; African 61.4%; East Asian 15.3%; South Asian 16.2%; Americas 17.0%; Ashkenazi 16.2%; Finnish 16.4%; Middle Eastern 15.6%; Amish 17.9%.

Estimated AA genotype frequency.

Global 44.9%; European 49.6%; African 33.9%; East Asian 47.6%; South Asian 48.1%; Americas 48.4%; Ashkenazi 48.1%; Finnish 48.2%; Middle Eastern 47.8%; Amish 48.8%.

Estimated AT genotype frequency.

Global 24.3%; European 29.6%; African 4.7%; East Asian 37.1%; South Asian 35.7%; Americas 34.6%; Ashkenazi 35.7%; Finnish 35.4%; Middle Eastern 36.7%; Amish 33.3%.

Estimated TT genotype frequency.

Associated Traits

Showing effects for A/A genotype

Organ Systems

Vision & Eye Health

Macular Degeneration. Evidence: 6/10. Source: PMID 26154559. Earlier Onset.

Respiratory Health

Pulmonary Fibrosis. Evidence: 3/10. Source: PMID 21649933. Increased Risk.

Dental & Oral Health

Periodontitis. Evidence: 4/10. Source: PMID 21091348. Increased Risk.

Cancer & Oncology

Cancer Prognosis & Treatment Outcome

Gastric Cancer Prognosis. Evidence: 3/10. Source: PMID 30275190. Shorter Survival.

Cardiovascular & Metabolic

Heart Disease

Heart Disease. Evidence: 3/10. Source: PMID 24462138. Increased Risk.

Showing effects for A/T genotype

Showing effects for T/T genotype

Macular Degeneration. Evidence: 6/10. Source: PMID 26154559. Typical Onset.

Pulmonary Fibrosis. Evidence: 3/10. Source: PMID 21649933. Typical Risk.

Periodontitis. Evidence: 4/10. Source: PMID 21091348. Typical Risk.

Gastric Cancer Prognosis. Evidence: 3/10. Source: PMID 30275190. Typical Survival.

Heart Disease. Evidence: 3/10. Source: PMID 24462138. Typical Risk.

What AA Genotype Means

What this genotype means for the people who carry it

Sample genotype: AA (Homozygous)

Increased transcriptional activity of the CXCL8 gene occurs with this genetic profile, resulting in higher baseline and stimulated levels of interleukin-8 [1]. This heightened inflammatory state is associated with an earlier onset of exudative age-related macular degeneration [2]. Research also indicates that a higher susceptibility to idiopathic pulmonary fibrosis is present [1]. In gastric cancer patients, the elevated inflammation is linked to a poorer overall prognosis and shorter survival times [3]. Furthermore, a strong connection exists to an increased risk of developing chronic periodontitis, a severe form of gum disease [4]. Finally, clinical studies show a poorer response to certain anti-VEGF therapies, such as bevacizumab, used for macular degeneration and various cancers [5].

Higher production of pro-inflammatory interleukin-8; Earlier onset of age-related macular degeneration; Poorer response to certain anti-VEGF therapies; Increased risk of chronic periodontitis.

What AT Genotype Means

Sample genotype: AT (Heterozygous)

Intermediate to high levels of interleukin-8 expression are typically observed with this genetic profile [1]. An increased risk of developing chronic periodontitis is common compared to those with the T/T genotype [2]. A link has also been established to an earlier onset of exudative age-related macular degeneration, though the effect may be slightly less pronounced than in those with two copies of the A allele [3]. In oncology and ophthalmology, a poorer response to anti-VEGF treatments like bevacizumab and ranibizumab is frequently observed [4]. Additionally, some studies suggest a moderately increased susceptibility to idiopathic pulmonary fibrosis due to the pro-inflammatory nature of the A allele [1]. Overall, this profile represents a state of heightened inflammatory readiness that can influence long-term tissue health [5].

Moderately elevated interleukin-8 levels; Slightly increased risk of chronic periodontitis; Altered response to anti-VEGF treatments.

What TT Genotype Means

Sample genotype: TT (Homozygous)

Lower promoter activity of the CXCL8 gene occurs with this genetic profile, leading to more controlled levels of the pro-inflammatory chemokine interleukin-8 [1]. This lower inflammatory profile is associated with a typical, later onset of age-related macular degeneration compared to carriers of the A allele [2]. A lower susceptibility to idiopathic pulmonary fibrosis is also exhibited [1]. In the context of gastric cancer, a more favorable prognosis and longer overall survival tend to occur [3]. Furthermore, protection against the development of severe chronic periodontitis is observed [4]. When undergoing treatments with anti-VEGF medications like bevacizumab or ranibizumab, a more favorable therapeutic response is generally shown [5].

Controlled, typical levels of interleukin-8; Typical onset of age-related macular degeneration; Better response to anti-VEGF therapies; Lower risk of chronic periodontitis.

Related Variants

Variants with shared genetic architecture

rs2227306 · CXCL8 Gene · Chr 4 · Asthma and Inflammatory Risk

rs4586 · CCL2 Gene · Chr 17 · Inflammatory Disease Risk

rs10468017 · LIPC Gene · Chr 15 · Cholesterol and Eye Health

Sources

The chemokine network. II. On how polymorphisms and alternative splicing increase the number of molecular species and configure intricate patterns of disease susceptibility.

A promoter SNP rs4073T>A in the common allele of the interleukin 8 gene is associated with the development of idiopathic pulmonary fibrosis via the IL-8 protein enhancing mode.

The genetic variant rs4073 A→T of the Interleukin-8 promoter region is associated with the earlier onset of exudative age-related macular degeneration.

IL-8-251T>A (rs4073) Polymorphism Is Associated with Prognosis in Gastric Cancer Patients.

Interleukin-8 gene promoter polymorphism (rs4073) may contribute to chronic periodontitis.

Interleukin 8 promoter polymorphism predicts the initial response to bevacizumab treatment for exudative age-related macular degeneration.

Back to Variant Explorer

Content updated August 2026.

ReadYourDNA provides educational interpretation of DNA data you already have. It is not diagnostic, not a substitute for professional medical advice, diagnosis, or treatment, and is not intended to diagnose, treat, cure, or prevent any disease. Talk to a clinician before acting on any result.

Raw DNA Data Reports for 23andMe & AncestryDNA · About ReadYourDNA · FAQ · Methodology & Science · Pricing · Support and complaints · Legal & Contact · Health Traits · Pharmacogenomics · Carrier Status · Variant Explorer · The Human Karyotype · Privacy Policy · Terms of Service · Accessibility · Consumer Health Data Privacy · Your Privacy Choices · Editorial Standards · Your Data, Checkable · Sample Report · ReadYourDNA and Promethease compared · What is inside a 23andMe raw data file · What is inside an AncestryDNA raw data file · What a chatbot can and cannot do with your raw DNA file · Where a raw DNA file can still be uploaded in 2026

Written, maintained and operated by Martin Pechhacker, sole proprietor, Vienna, Austria. Trade register GISA 40064420. support@readyourdna.com