What you carry at this position in your DNA and what research says about it.
Prostate Cancer Risk: 10/10 evidence, 16 publications.
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Sample genotype (not yours): T/T
Higher Risk of Prostate Cancer
Carrying two copies of the T allele is associated with an elevated risk of developing prostate cancer. It is also linked to higher baseline levels of prostate-specific antigen.
What this genotype means: Elevated risk of prostate cancer; Higher baseline PSA levels.
Sample genotype (not yours): C/C
Typical Risk of Prostate Cancer
Carrying two copies of the C allele is associated with a typical, baseline risk of prostate cancer. It is also linked to lower baseline prostate-specific antigen levels.
What this genotype means: Typical baseline risk of prostate cancer; Typical baseline PSA levels.
Sample genotype (not yours): T/C
Moderately Increased Risk of Prostate Cancer
Carrying one copy of the T allele is linked to a moderately elevated risk of prostate cancer. It also correlates with slightly higher baseline prostate-specific antigen levels.
What this genotype means: Moderately elevated risk of prostate cancer; Slightly higher baseline PSA levels.
Gene function and biological role
Gene Function: NKX3-1 is a critical homeobox gene located on chromosome 8p21.2 that acts as a prostate-specific tumor suppressor [1]. It plays an essential role in regulating prostate gland development and maintaining normal cellular differentiation [2]. Loss of NKX3-1 expression is one of the most common somatic events observed in the early stages of prostate carcinogenesis [1]. Studies show that genetic variants in this region can influence the transcriptional activity of NKX3-1, altering its protective tumor-suppressive functions [1].
Variant Impact: The variant rs1512268 is located in an intronic region near the NKX3-1 gene on chromosome 8p21.2 [1]. This genetic marker is strongly associated with susceptibility to prostate cancer across diverse global populations [3]. Research suggests that the risk allele at this locus may be linked to altered DNA repair capacity and cellular responses to damage [4]. Additionally, this variant correlates with variations in circulating prostate-specific antigen levels, a key biomarker used in clinical screening [5].
Key Insight: This variant is located near a critical prostate tumor suppressor gene and influences both cancer risk and baseline PSA screening levels.
Location: NKX3-1. Chromosome 8 · 8p21.2 · 23.7 Mb
Estimated prevalence by population
Global 25.3%; European 18.6%; African 41.2%; East Asian 8.7%; South Asian 19.2%; Americas 21.5%; Ashkenazi 17.8%; Finnish 25.7%; Middle Eastern 28.2%; Amish 20.3%.
Estimated TT genotype frequency.
Global 48.1%; European 49.1%; African 46.0%; East Asian 41.5%; South Asian 49.2%; Americas 49.7%; Ashkenazi 48.8%; Finnish 50.0%; Middle Eastern 49.8%; Amish 49.5%.
Estimated TC genotype frequency.
Global 26.6%; European 32.4%; African 12.8%; East Asian 49.8%; South Asian 31.5%; Americas 28.7%; Ashkenazi 33.4%; Finnish 24.3%; Middle Eastern 22.0%; Amish 30.2%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cancer & Oncology
Prostate Cancer
Prostate Cancer. Evidence: 10/10. Source: PMID 19767753. Increased Risk.
PSA Levels. Evidence: 8/10. Source: PMID 39024449. Higher Levels.
Showing effects for C/C genotype
Prostate Cancer. Evidence: 10/10. Source: PMID 19767753. Typical Risk.
PSA Levels. Evidence: 8/10. Source: PMID 39024449. Typical Levels.
Showing effects for T/C genotype
Prostate Cancer. Evidence: 10/10. Source: PMID 19767753. Moderately Increased.
PSA Levels. Evidence: 8/10. Source: PMID 39024449. Slightly Higher.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Inheriting two copies of the T allele at this locus is associated with a significantly increased risk of developing prostate cancer [1]. Large-scale genome-wide association studies across multiple ancestries have consistently identified the T allele as a risk-conferring genetic marker [2]. This genetic variation is situated near the NKX3-1 tumor suppressor gene, where the risk-associated haplotype is linked to reduced expression of this protective protein in prostate tissue [3]. Furthermore, carriers of this genotype tend to exhibit higher circulating levels of prostate-specific antigen, which is a primary biomarker monitored during routine screenings [4]. Some research also suggests that cells carrying these risk alleles may show differences in DNA double-strand break repair capacity following cellular stress [5]. Understanding this genetic profile can help inform personalized discussions with healthcare providers regarding standard prostate health monitoring and screening intervals.
Elevated risk of prostate cancer; Higher baseline PSA levels.
Sample genotype: CC (Homozygous)
Carrying two copies of the protective C allele is associated with a typical, baseline risk of developing prostate cancer [1]. This genotype represents the most common genetic profile globally, helping to maintain standard levels of the NKX3-1 tumor suppressor protein in prostate tissue [2]. Because this genotype lacks the risk-associated T allele, individuals do not experience the genetic elevation in prostate cancer susceptibility linked to this specific locus [3]. Baseline levels of circulating prostate-specific antigen also tend to remain within the typical, lower range associated with this marker [4]. Furthermore, cellular assays suggest that individuals with this genotype maintain standard DNA repair efficiency and cellular recovery mechanisms [5]. While this genetic profile is protective against the elevated risk seen in T-allele carriers, maintaining routine wellness exams and discussing standard screening guidelines with a healthcare provider remains important for overall health.
Typical baseline risk of prostate cancer; Typical baseline PSA levels.
Sample genotype: TC (Heterozygous)
Carrying a single copy of the T allele is associated with a moderately increased susceptibility to prostate cancer compared to the typical baseline [1]. Multi-ethnic genetic studies have replicated this association, demonstrating that even a single copy of the risk allele influences overall predisposition [2]. The presence of the T allele is thought to correlate with a subtle downregulation of the nearby NKX3-1 tumor suppressor gene, which is vital for maintaining healthy prostate cell growth [3]. Additionally, individuals with this heterozygous genotype often show slightly elevated levels of circulating prostate-specific antigen [4]. Cellular studies indicate that this genetic background may also influence how cells manage DNA repair processes after exposure to ionizing radiation or other stressors [5]. These findings highlight the utility of discussing personalized screening strategies with a physician, especially when combined with family history.
Moderately elevated risk of prostate cancer; Slightly higher baseline PSA levels.
Variants with shared genetic architecture
rs1016343 · PRNCR1 Gene · Chr 8 · Prostate Cancer Risk
rs10486567 · JAZF1 Gene · Chr 7 · Prostate Cancer Risk
rs10993994 · MSMB Gene · Chr 10 · Prostate Cancer Risk
Prostate cancer risk alleles and their associations with other malignancies.
The prostate cancer risk locus at 10q11 is associated with DNA repair capacity.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Content updated August 2026.
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