What you carry at this position in your DNA and what research says about it.
Prostate Cancer Risk: 10/10 evidence, 12 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 Risk of Prostate Cancer
Two copies of the G allele are associated with a moderately increased risk of developing prostate cancer. This genetic profile is also linked to slightly higher baseline levels of prostate-specific antigen (PSA).
What this genotype means: Moderately higher risk of developing prostate cancer; Slightly elevated baseline PSA levels.
Sample genotype (not yours): G/T
Moderately Higher Risk of Prostate Cancer
One copy of the G allele is linked to a slightly increased risk of prostate cancer. Baseline prostate-specific antigen (PSA) levels may also be slightly elevated compared to those with the typical genotype.
What this genotype means: Slightly increased risk of prostate cancer; Slightly elevated baseline PSA levels.
Sample genotype (not yours): T/T
Typical Risk of Prostate Cancer
Two copies of the T allele are associated with a typical, baseline risk of prostate cancer. This genetic profile avoids the risk elevation linked to the G allele.
What this genotype means: Typical baseline risk of prostate cancer; Standard baseline PSA levels.
Gene function and biological role
Gene Function: The intergenic region harboring this variant lies between the BIK and TTLL1 genes on chromosome 22. BIK encodes a pro-apoptotic protein that plays a critical role in regulating programmed cell death [1]. TTLL1 is involved in tubulin modification, which is essential for cellular structure and intracellular transport. Research indicates that genetic variations in this region can alter the spatial chromatin interactions and expression of these neighboring genes [2]. This locus is one of several well-studied regions associated with susceptibility to hormone-related cancers [3].
Variant Impact: Located in a non-coding intergenic region on chromosome 22, rs5759167 is a single nucleotide change. Although it does not change a protein sequence directly, it acts as an expression quantitative trait locus (eQTL) that influences gene regulation [2]. Specifically, the risk-increasing G allele is associated with increased expression of PACSIN2, a gene that regulates cell migration [2]. It also affects the transcriptional activity of the nearby pro-apoptotic gene BIK in tumor tissues [1]. This regulatory effect makes it a key marker for prostate cancer susceptibility and biomarker levels [4].
Key Insight: This variant acts as an intergenic regulator, meaning it affects how neighboring genes are turned on or off rather than changing a protein directly.
Location: BIK. Chromosome 22 · 22q13.2 · 43.1 Mb
Estimated prevalence by population
Global 36.6%; European 25.2%; African 56.8%; East Asian 46.8%; South Asian 33.0%; Americas 40.4%; Ashkenazi 26.2%; Finnish 27.5%; Middle Eastern 21.4%; Amish 20.4%.
Estimated GG genotype frequency.
Global 45.8%; European 50.0%; African 37.2%; East Asian 43.2%; South Asian 48.9%; Americas 46.3%; Ashkenazi 50.0%; Finnish 49.9%; Middle Eastern 49.7%; Amish 49.5%.
Estimated GT genotype frequency.
Global 17.6%; European 24.8%; African 6.1%; East Asian 10.0%; South Asian 18.1%; Americas 13.3%; Ashkenazi 23.9%; Finnish 22.6%; Middle Eastern 28.9%; Amish 30.1%.
Estimated TT genotype frequency.
Showing effects for G/G genotype
Cancer & Oncology
Prostate Cancer
Prostate Cancer. Evidence: 10/10. Source: PMID 33398198. ~1.3x Higher Risk.
PSA Levels. Evidence: 10/10. Source: PMID 39024449. Slightly Elevated.
Skin Cancer
Melanoma. Evidence: 3/10. Source: PMID 21820706. Slightly Increased.
General Cancer Risk
General Cancer Risk. Evidence: 6/10. Source: PMID 32887889. ~1.14x Higher Risk.
Showing effects for G/T genotype
Prostate Cancer. Evidence: 10/10. Source: PMID 33398198. ~1.14x Higher Risk.
General Cancer Risk. Evidence: 6/10. Source: PMID 32887889. Slightly Increased.
Showing effects for T/T genotype
Prostate Cancer. Evidence: 10/10. Source: PMID 33398198. Typical Risk.
PSA Levels. Evidence: 10/10. Source: PMID 39024449. Typical.
Melanoma. Evidence: 3/10. Source: PMID 21820706. Typical.
General Cancer Risk. Evidence: 6/10. Source: PMID 32887889. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
A homozygous G/G profile represents a well-established genetic risk factor for prostate cancer, with large-scale genome-wide association studies showing a moderately higher susceptibility [1]. Research indicates that the G allele is associated with increased expression of PACSIN2, a gene involved in cell migration, and BIK, which regulates cell death pathways [2] [3]. Baseline prostate-specific antigen (PSA) levels tend to be slightly higher in those with this genetic profile, which is a common biomarker used in prostate screening [4]. Furthermore, some studies suggest a potential pleiotropic link, where carriers of this risk variant may have a slightly altered susceptibility to other malignancies, such as melanoma [5]. Understanding this genetic profile can help inform personalized discussions with healthcare providers regarding prostate health and screening strategies.
Moderately higher risk of developing prostate cancer; Slightly elevated baseline PSA levels.
Sample genotype: GT (Heterozygous)
A heterozygous G/T profile is associated with a modest increase in prostate cancer susceptibility [1]. This genetic variant lies in an intergenic region on chromosome 22 and is thought to influence the regulation of nearby genes like BIK and PACSIN2, which are involved in cell survival and migration [2] [3]. Because this is a common variant, a single copy is highly prevalent in many populations, particularly those of European and Middle Eastern ancestries. Studies have also shown a correlation between the G allele and slightly higher baseline PSA levels, which can influence prostate screening results [4]. Additionally, researchers have explored whether this variant affects the risk of other cancers, finding minor associations with conditions like melanoma in some cohorts [5].
Slightly increased risk of prostate cancer; Slightly elevated baseline PSA levels.
Sample genotype: TT (Homozygous)
A homozygous T/T profile represents the baseline genetic profile for prostate cancer risk at this specific locus, as it lacks the risk-increasing G allele [1]. Large-scale genetic analyses confirm that those with two copies of the T allele do not experience the elevated susceptibility to prostate cancer or other malignancies associated with this variant [2] [3]. Baseline prostate-specific antigen (PSA) levels are typically lower or standard compared to G allele carriers [4]. While having this profile is protective against this specific genetic risk factor, overall prostate health is still influenced by a combination of other genetic markers, lifestyle, and age.
Typical baseline risk of prostate cancer; Standard baseline PSA levels.
Variants with shared genetic architecture
rs10486567 · JAZF1 Gene · Chr 7 · Prostate Cancer Risk
rs10934853 · EEFSEC Gene · Chr 3 · Prostate Cancer Risk
rs10993994 · MSMB Gene · Chr 10 · Prostate Cancer Risk
Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Prostate cancer risk alleles and their associations with other malignancies.
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