What you carry at this position in your DNA and what research says about it.
Prostate Cancer Risk: 10/10 evidence, 31 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): G/G
Higher Prostate Cancer Risk
Two copies of the G allele are associated with an increased risk of developing prostate cancer. This genotype is also linked to higher baseline prostate-specific antigen (PSA) levels.
What this genotype means: Increased risk of prostate cancer; Higher baseline PSA levels.
Sample genotype (not yours): A/A
Lower Prostate Cancer Risk
Two copies of the protective A allele are associated with a reduced risk of developing prostate cancer. This genotype is also linked to lower baseline PSA levels.
What this genotype means: Reduced risk of prostate cancer; Lower baseline PSA levels.
Sample genotype (not yours): G/A
Moderately Higher Prostate Cancer Risk
One copy of the G allele is associated with a moderately increased risk of prostate cancer. This genotype also correlates with slightly higher baseline PSA levels.
What this genotype means: Moderately increased risk of prostate cancer; Slightly higher baseline PSA levels.
Gene function and biological role
Gene Function: JAZF1 encodes a nuclear protein containing three C2H2-type zinc fingers that functions as a transcriptional repressor. It is highly expressed in the testis and prostate, where it helps regulate cell survival and proliferation. Disruption or fusion of the JAZF1 gene is frequently implicated in endometrial and prostate cancers. It physically interacts with orphan nuclear receptors to modulate transcription and maintain cellular homeostasis.
Variant Impact: Located within intron 2 of the JAZF1 gene, rs10486567 is a common genetic variation. This genetic change acts as a transcriptional enhancer regulator that influences long-range chromatin interactions. Specifically, it has been shown to regulate the expression of the non-coding RNA HOTTIP, which affects cell migration and invasion. It is one of the most well-replicated genetic markers for prostate cancer susceptibility.
Key Insight: This variant independently influences baseline PSA levels, meaning some men may have naturally higher PSA readings without active disease.
Location: JAZF1. Chromosome 7 · 7p15.1 · 27.9 Mb
Estimated prevalence by population
Global 51.7%; European 59.5%; African 51.1%; East Asian 1.6%; South Asian 47.2%; Americas 35.3%; Ashkenazi 48.2%; Finnish 54.1%; Middle Eastern 60.1%; Amish 58.6%.
Estimated GG genotype frequency.
Global 38.3%; European 35.3%; African 40.8%; East Asian 22.0%; South Asian 43.0%; Americas 48.2%; Ashkenazi 42.5%; Finnish 38.9%; Middle Eastern 34.8%; Amish 35.9%.
Estimated GA genotype frequency.
Global 10.0%; European 5.2%; African 8.1%; East Asian 76.4%; South Asian 9.8%; Americas 16.5%; Ashkenazi 9.4%; Finnish 7.0%; Middle Eastern 5.0%; Amish 5.5%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cancer & Oncology
Prostate Cancer
Prostate Cancer. Evidence: 10/10. Source: PMID 18264096. ~1.37x Risk.
PSA Levels. Evidence: 8/10. Source: PMID 28139693. Elevated.
General Cancer Risk
General Cancer Risk. Evidence: 6/10. Source: PMID 32887889. ~1.16x Risk.
Showing effects for A/A genotype
Prostate Cancer. Evidence: 10/10. Source: PMID 18264096. Reduced Risk.
PSA Levels. Evidence: 8/10. Source: PMID 28139693. Typical.
General Cancer Risk. Evidence: 6/10. Source: PMID 32887889. Typical.
Showing effects for G/A genotype
Prostate Cancer. Evidence: 10/10. Source: PMID 18264096. ~1.19x Risk.
PSA Levels. Evidence: 8/10. Source: PMID 28139693. Slightly Elevated.
General Cancer Risk. Evidence: 6/10. Source: PMID 32887889. Slightly Elevated.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Large-scale genome-wide association studies have consistently linked the G allele of rs10486567 to an elevated risk of prostate cancer. Men with the G/G genotype have approximately a 1.37-fold higher risk of developing prostate cancer compared to those with the protective A/A genotype. This variant is located within the JAZF1 gene, which plays a critical role in regulating cell growth and survival in prostate tissue. Research indicates that this genetic marker is also associated with elevated prostate-specific antigen (PSA) levels, independent of active cancer. The association remains significant across multiple ancestral populations, making it a robust marker for genetic risk screening. While the risk is elevated, carrying this genotype does not guarantee a cancer diagnosis, as lifestyle and environmental factors play major roles.
Increased risk of prostate cancer; Higher baseline PSA levels.
Sample genotype: AA (Homozygous)
The A/A genotype is protective, conferring a significantly lower risk of developing prostate cancer compared to carriers of the G allele. Individuals with this genotype typically exhibit lower baseline prostate-specific antigen (PSA) levels. This protective effect is mediated through the JAZF1 gene locus, which regulates transcription and cellular proliferation in the prostate. Large-scale multiethnic studies have confirmed that the A allele consistently correlates with reduced cancer susceptibility. While this genotype is associated with a lower risk, it does not entirely eliminate the possibility of developing prostate cancer, and standard screening guidelines still apply.
Reduced risk of prostate cancer; Lower baseline PSA levels.
Sample genotype: GA (Heterozygous)
Inheriting one copy of the risk-associated G allele and one copy of the protective A allele results in a moderate increase in prostate cancer susceptibility. Studies show that heterozygotes have about a 1.19-fold increased risk of developing prostate cancer compared to those with the A/A genotype. This intronic variant in the JAZF1 gene is thought to influence chromatin interactions and gene expression in prostate cells. It is also linked to slightly elevated baseline prostate-specific antigen (PSA) levels. The risk associated with this genotype is well-documented across diverse ethnic groups, including European and African ancestries. Understanding this genetic predisposition can help inform personalized discussions with healthcare providers regarding prostate health monitoring.
Moderately increased risk of prostate cancer; Slightly higher baseline PSA levels.
Variants with shared genetic architecture
rs864745 · JAZF1 Gene · Chr 7 · Type 2 Diabetes Risk
rs1635852 · JAZF1 Gene · Chr 7 · Type 2 Diabetes Risk
rs849134 · JAZF1 Gene · Chr 7 · Type 2 Diabetes Risk
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