What you carry at this position in your DNA and what research says about it.
HPV and Cancer Risk: 8/10 evidence, 4 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 Risk of HPV and Head and Neck Cancer
This genotype is associated with an increased susceptibility to high-risk HPV infections and a higher risk of head and neck cancers. It is also linked to slightly lower blood sugar levels.
What this genotype means: Higher susceptibility to high-risk HPV infection; Increased risk of head and neck cancer; Slightly lower HbA1c levels.
Sample genotype (not yours): A/T
Reduced Risk of HPV and Head and Neck Cancer
This genotype is associated with a lower susceptibility to high-risk HPV infections and a decreased risk of head and neck cancers compared to the A/A genotype. Blood sugar and immune marker levels are generally typical.
What this genotype means: Lower susceptibility to high-risk HPV infection; Reduced risk of head and neck cancer; Typical blood sugar levels.
Sample genotype (not yours): T/T
Lowest Risk of HPV and Head and Neck Cancer
This genotype offers the strongest protection against high-risk HPV infections and head and neck cancers. However, it is also linked to slightly higher blood sugar levels.
What this genotype means: Strongest protection against high-risk HPV; Lowest risk of head and neck cancer; Slightly higher HbA1c levels.
Gene function and biological role
Gene Function: The TMC8 gene, also known as EVER2, plays a critical role in cellular zinc homeostasis and immune system regulation. It is highly expressed in T-lymphocytes and keratinocytes, where it forms a complex with TMC6 to restrict viral replication [1]. Mutations that completely disrupt this gene cause epidermodysplasia verruciformis, a rare condition of extreme susceptibility to cutaneous HPV infections [1]. Beyond rare disorders, common variations in this gene influence how the immune system responds to viral pathogens [1]. It also appears to modulate the levels of several key T-cell receptor signaling proteins [2].
Variant Impact: A single nucleotide change in the TMC8 gene alters the amino acid at position 306 from asparagine to isoleucine. This missense variation, known as p.Asn306Ile, affects the structure of the transmembrane channel-like protein 8. The alteration influences susceptibility to high-risk human papillomavirus (HPV) strains and associated epithelial cancers [1]. It also correlates with subtle variations in metabolic markers like HbA1c and immune cell signaling proteins [3] [2]. ClinVar classifies the major T allele of this variant as benign, confirming it does not cause rare genetic skin syndromes.
Key Insight: The same gene linked to a rare, extreme susceptibility to skin warts also influences our everyday defense against high-risk HPV strains and head and neck cancers.
Location: TMC8. Chromosome 17 · 17q25.3 · 78.1 Mb
Estimated prevalence by population
Global 21.0%; European 26.0%; African 10.4%; East Asian 32.3%; South Asian 24.3%; Americas 18.0%; Ashkenazi 21.3%; Finnish 26.7%; Middle Eastern 12.5%; Amish 35.0%.
Estimated AA genotype frequency.
Global 48.1%; European 50.0%; African 43.7%; East Asian 49.1%; South Asian 50.0%; Americas 48.8%; Ashkenazi 49.7%; Finnish 49.9%; Middle Eastern 45.7%; Amish 48.3%.
Estimated AT genotype frequency.
Global 31.0%; European 24.0%; African 45.9%; East Asian 18.6%; South Asian 25.7%; Americas 33.2%; Ashkenazi 29.0%; Finnish 23.4%; Middle Eastern 41.8%; Amish 16.7%.
Estimated TT genotype frequency.
Showing effects for A/A genotype
Cancer & Oncology
Gynecological Cancers
HPV-Related Cancer Risk. Evidence: 3/10. Source: PMID 25853559. Highest Risk.
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Blood Glucose. Evidence: 7/10. Source: PMID 33462484. Lower HbA1c.
Blood Cell & Iron Traits
Red Blood Cell Size. Evidence: 8/10. Source: PMID 39789286. Slightly Larger Cells.
Immunity & Inflammation
Inflammatory & Circulating Protein Markers
Immune Protein Levels. Evidence: 8/10. Source: PMID 39789286. Higher Levels.
Showing effects for A/T genotype
HPV-Related Cancer Risk. Evidence: 3/10. Source: PMID 25853559. Reduced Risk.
Blood Glucose. Evidence: 7/10. Source: PMID 33462484. Typical.
Red Blood Cell Size. Evidence: 8/10. Source: PMID 39789286. Typical.
Immune Protein Levels. Evidence: 8/10. Source: PMID 39789286. Typical.
Showing effects for T/T genotype
HPV-Related Cancer Risk. Evidence: 3/10. Source: PMID 25853559. Lowest Risk.
Blood Glucose. Evidence: 7/10. Source: PMID 33462484. Slightly Higher HbA1c.
Red Blood Cell Size. Evidence: 8/10. Source: PMID 39789286. Slightly Smaller Cells.
Immune Protein Levels. Evidence: 8/10. Source: PMID 39789286. Lower Levels.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
The TMC8 gene encodes a protein that plays a vital role in regulating zinc levels within cells and is highly expressed in immune T-cells [1]. Having the A/A genotype is linked to a higher susceptibility to persistent infections with high-risk human papillomavirus (HPV) strains, such as HPV16 and HPV18 [1]. This increased susceptibility translates to a significantly higher risk of developing head and neck squamous cell carcinomas [1]. On the other hand, this genotype is associated with slightly lower HbA1c levels, indicating a minor benefit for blood sugar regulation [2]. It is also linked to higher levels of several key T-cell signaling proteins, including CD5 and CD6 [3]. Overall, the elevated cancer and viral infection risk makes this genotype less favorable.
Higher susceptibility to high-risk HPV infection; Increased risk of head and neck cancer; Slightly lower HbA1c levels.
Sample genotype: AT (Heterozygous)
One copy of the protective T allele provides a significant defense against persistent high-risk HPV infections [1]. Research indicates that individuals with the A/T genotype have a reduced risk of developing head and neck squamous cell carcinomas compared to those with the A/A genotype [1]. The TMC8 protein is crucial for controlling intracellular zinc, which is necessary for viral replication and immune cell activation [1]. This genotype also exhibits typical HbA1c levels, representing a balanced profile for blood sugar regulation [2]. Additionally, levels of T-cell surface proteins like CD5 and CD6 remain within the typical range [3]. This intermediate status offers a protective advantage against viral-related cancers without notable metabolic drawbacks.
Lower susceptibility to high-risk HPV infection; Reduced risk of head and neck cancer; Typical blood sugar levels.
Sample genotype: TT (Homozygous)
Two copies of the T allele offer the strongest protection against persistent infections with high-risk HPV strains like HPV18 and HPV16 [1]. This genetic profile is associated with the lowest risk of head and neck squamous cell carcinomas [1]. The underlying mechanism likely involves the TMC8 protein's role in T-lymphocyte function and zinc homeostasis, which helps the immune system clear viral infections [1]. ClinVar assessments confirm that this common T allele is entirely benign regarding rare skin disorders like epidermodysplasia verruciformis, meaning it does not cause disease. However, this genotype is associated with slightly higher HbA1c levels, suggesting a minor increase in average blood sugar [2]. It is also linked to slightly lower levels of T-cell signaling proteins and slightly smaller red blood cells [3]. Despite the minor metabolic trade-off, the significant reduction in cancer risk makes this genotype highly favorable.
Strongest protection against high-risk HPV; Lowest risk of head and neck cancer; Slightly higher HbA1c levels.
Variants with shared genetic architecture
rs10484554 · HLA-C Gene · Chr 6 · Psoriasis Risk
rs11052877 · CD69 Gene · Chr 12 · Thyroid Disease Risk
rs11257655 · CDC123 Gene · Chr 10 · Type 2 Diabetes Risk
A scalable variational inference approach for increased mixed-model association power.
Genetics of 35 blood and urine biomarkers in the UK Biobank.
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