What you carry at this position in your DNA and what research says about it.
Prostate Cancer Risk: 8/10 evidence, 27 publications.
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Sample genotype (not yours): C/C
Typical Prostate Cancer Risk
Carrying two copies of the common C allele is associated with a baseline risk of developing prostate cancer. This genotype is not linked to elevated rates of disease progression.
What this genotype means: Typical risk of prostate cancer; Typical rate of disease progression.
Sample genotype (not yours): C/T
Slightly Increased Prostate Cancer Risk
Carrying one copy of the T allele is associated with a slightly higher risk of prostate cancer. However, this heterozygous state may promote higher transporter expression, potentially aiding drug response.
What this genotype means: Slightly increased risk of prostate cancer; Potential for altered drug transport in tumors.
Sample genotype (not yours): T/T
Increased Prostate Cancer Risk
Carrying two copies of the T allele is linked to an increased risk of prostate cancer. It is also associated with a higher likelihood of disease progression.
What this genotype means: Increased risk of prostate cancer; Higher likelihood of disease progression.
Gene function and biological role
Gene Function: The SLC22A3 gene encodes organic cation transporter 3, a protein that plays a critical role in transporting small molecules across cell membranes [1]. It is highly expressed in various tissues, including the liver, kidneys, heart, and prostate [1]. This transporter is essential for the elimination of endogenous compounds, environmental toxins, and many therapeutic drugs [1]. Alterations in its expression can significantly affect how cells absorb and process chemotherapy agents, influencing drug resistance [2]. Additionally, genetic variations in this gene have been linked to susceptibility and progression of several cancers [3].
Variant Impact: The rs9364554 variant is an intronic change located within the SLC22A3 gene on chromosome 6. This genetic variation alters the binding affinity of key transcription factors, including the androgen receptor and FOXA1, which regulate gene expression [2]. In normal prostate tissue the three genotypes show no difference in transporter expression, while in prostate tumor tissue the heterozygous state carries the highest levels [2]. This change has been identified as a significant risk locus for prostate cancer susceptibility in large-scale genome-wide studies [3]. It also serves as a molecular marker for studying disease progression and potential chemotherapy outcomes [4].
Key Insight: While the T allele increases prostate cancer risk, the heterozygous C/T genotype unexpectedly shows higher transporter expression in tumor tissues, which may help cells absorb chemotherapy drugs more effectively.
Location: SLC22A3. Chromosome 6 · 6q25.3 · 160.4 Mb
Estimated prevalence by population
Global 63.4%; European 51.9%; African 87.8%; East Asian 45.3%; South Asian 52.8%; Americas 61.5%; Ashkenazi 65.1%; Finnish 58.6%; Middle Eastern 80.6%; Amish 43.5%.
Estimated CC genotype frequency.
Global 31.3%; European 40.3%; African 11.8%; East Asian 44.0%; South Asian 39.7%; Americas 33.8%; Ashkenazi 31.2%; Finnish 35.9%; Middle Eastern 18.3%; Amish 44.9%.
Estimated CT genotype frequency.
Global 5.3%; European 7.8%; African 0.4%; East Asian 10.7%; South Asian 7.5%; Americas 4.7%; Ashkenazi 3.7%; Finnish 5.5%; Middle Eastern 1.0%; Amish 11.6%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cancer & Oncology
Prostate Cancer
Prostate Cancer. Evidence: 8/10. Source: PMID 29892016. Typical Risk.
Cancer Prognosis & Treatment Outcome
Cancer Progression. Evidence: 3/10. Source: PMID 20651075. Typical Progression.
Pancreatic Cancer Survival. Evidence: 3/10. Source: PMID 28272475. Typical Survival.
Showing effects for C/T genotype
Prostate Cancer. Evidence: 8/10. Source: PMID 29892016. Slightly Increased.
Cancer Progression. Evidence: 3/10. Source: PMID 20651075. Slightly Increased.
Pancreatic Cancer Survival. Evidence: 3/10. Source: PMID 28272475. Altered Survival.
Showing effects for T/T genotype
Prostate Cancer. Evidence: 8/10. Source: PMID 29892016. Increased Risk.
Cancer Progression. Evidence: 3/10. Source: PMID 20651075. Increased Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
This genotype represents the most common genetic background globally. Large-scale genome-wide association studies show that individuals with the C/C genotype do not carry the elevated risk of prostate cancer associated with the T variant [1]. In terms of disease progression, this baseline genotype is associated with typical outcomes rather than accelerated progression [2]. Furthermore, in tumor tissues, homozygous genotypes like C/C show lower expression of the SLC22A3 transporter compared to the heterozygous state [3]. This lower expression can sometimes influence how cells transport certain chemotherapeutic agents, potentially affecting drug sensitivity [3].
Typical risk of prostate cancer; Typical rate of disease progression.
Sample genotype: CT (Heterozygous)
Having one copy of the T allele slightly increases the statistical risk of developing prostate cancer compared to the common C/C genotype [1]. Research indicates that this variant may also be associated with a higher likelihood of disease progression if cancer develops [2]. Interestingly, molecular studies have revealed a non-canonical regulatory mechanism where the heterozygous C/T genotype actually exhibits higher transcription levels of the SLC22A3 gene in prostate tumor tissues compared to both homozygotes [3]. Because SLC22A3 encodes a membrane transporter that facilitates drug diffusion, this boost in expression is linked to better drug accumulation and lower risk of chemotherapy resistance [3]. Additionally, variations in this gene have been studied for their potential to influence overall survival in other malignancies like pancreatic cancer [4].
Slightly increased risk of prostate cancer; Potential for altered drug transport in tumors.
Sample genotype: TT (Homozygous)
Individuals with two copies of the T allele have a moderately increased risk of developing prostate cancer [1]. This genetic variant has been repeatedly identified in large multiethnic cohorts as a susceptibility marker [2]. Beyond initial risk, carrying the T/T genotype is associated with a higher risk of prostate cancer progression [3]. At the cellular level, the T/T genotype does not benefit from the elevated SLC22A3 transporter expression seen in heterozygotes, resulting in typical baseline expression levels in tumor tissues [4]. This typical expression level means there is no additional genetic advantage against chemotherapy resistance compared to those with the C/T genotype [4]. Finally, researchers continue to investigate how these transporter variations affect survival outcomes across different cancer types [5].
Increased risk of prostate cancer; Higher likelihood of disease progression.
Variants with shared genetic architecture
rs2292334 · SLC22A3 Gene · Chr 6 · Antidepressant Response
rs2048327 · SLC22A3 Gene · Chr 6 · Heart Disease Risk
rs10486567 · JAZF1 Gene · Chr 7 · Prostate Cancer Risk
SNP rs9364554 Modulates Androgen Receptor Binding and Drug Response in Prostate Cancer.
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.
Prostate cancer susceptibility variants confer increased risk of disease progression.
Content updated August 2026.
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