What you carry at this position in your DNA and what research says about it.
Prostate Cancer Risk: 10/10 evidence, 18 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
Lower Risk of Prostate Cancer
Presence of two copies of the protective A allele is associated with a significantly lower risk of developing prostate cancer. Liver enzyme levels may also be slightly higher.
What this genotype means: Lower risk of prostate cancer; Slightly higher liver enzyme levels.
Sample genotype (not yours): A/G
Typical Risk of Prostate Cancer
One copy of the protective A allele and one copy of the risk G allele results in an intermediate, typical risk of prostate cancer. Liver enzyme levels and diabetes risk are generally within the typical range.
What this genotype means: Typical risk of prostate cancer; Typical liver enzyme levels.
Sample genotype (not yours): G/G
Slightly Higher Risk of Prostate Cancer
Two copies of the G allele are associated with a slightly higher risk of prostate cancer. This is the most common genotype in the general population.
What this genotype means: Slightly higher risk of prostate cancer; Typical liver enzyme levels.
Gene function and biological role
Gene Function: The HNF1B gene encodes hepatocyte nuclear factor-1 beta, a crucial transcription factor that regulates the activity of other genes [1]. It plays a fundamental role in the development and function of the kidneys, pancreas, liver, and genitourinary tract [2]. Mutations in this gene are known to cause maturity-onset diabetes of the young type 5, also known as renal cysts and diabetes syndrome [3]. Additionally, HNF1B is heavily implicated in tissue differentiation and tumor suppression pathways [4].
Variant Impact: The rs11649743 variant is an intron variant located within the HNF1B gene. It is a common genetic marker that has been repeatedly associated with prostate cancer susceptibility across diverse populations [2]. Research indicates that this specific variant may influence the expression of HNF1B, thereby altering downstream cellular pathways in prostate tissue [1]. Interestingly, while some variants in this gene affect both diabetes and cancer risk, rs11649743 represents a distinct locus with a primary impact on prostate health [4].
Key Insight: This variant exhibits an intriguing evolutionary trade-off where the genetic sequence that protects against prostate cancer is marginally linked to higher blood sugar levels.
Location: HNF1B. Chromosome 17 · 17q12 · 37.7 Mb
Estimated prevalence by population
Global 2.8%; European 3.6%; African 0.5%; East Asian 11.4%; South Asian 2.2%; Americas 3.5%; Ashkenazi 1.8%; Finnish 2.0%; Middle Eastern 1.8%; Amish 3.5%.
Estimated AA genotype frequency.
Global 25.6%; European 30.6%; African 13.5%; East Asian 44.8%; South Asian 25.5%; Americas 30.4%; Ashkenazi 23.3%; Finnish 24.4%; Middle Eastern 23.0%; Amish 30.3%.
Estimated AG genotype frequency.
Global 71.6%; European 65.9%; African 85.9%; East Asian 43.8%; South Asian 72.3%; Americas 66.1%; Ashkenazi 74.9%; Finnish 73.6%; Middle Eastern 75.2%; Amish 66.2%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cancer & Oncology
Prostate Cancer
Prostate Cancer. Evidence: 10/10. Source: PMID 22219177. Lower Risk.
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 3/10. Source: PMID 19168595. Slightly Higher Risk.
Organ Systems
Liver Function & Disease
GGT Liver Enzyme. Evidence: 6/10. Source: PMID 36333282. Slightly Higher GGT.
AST Liver Enzyme. Evidence: 5/10. Source: PMID 38116116. Typical AST.
Showing effects for A/G genotype
Prostate Cancer. Evidence: 10/10. Source: PMID 22219177. Typical Risk.
Type 2 Diabetes. Evidence: 3/10. Source: PMID 19168595. Typical Risk.
GGT Liver Enzyme. Evidence: 6/10. Source: PMID 36333282. Typical GGT.
Showing effects for G/G genotype
Prostate Cancer. Evidence: 10/10. Source: PMID 22219177. ~1.25x Higher Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
A protective effect against prostate cancer is observed in those with the A/A genotype compared to the more common G/G genotype [1]. Multiple large-scale genome-wide association studies have confirmed that the A allele is associated with a decreased susceptibility to prostate malignancies across various ancestries [2]. This protective effect is thought to be mediated by subtle changes in HNF1B gene expression, which plays a role in cell differentiation [3]. However, this genotype is also associated with slightly higher levels of gamma-glutamyl transferase, a liver enzyme [4]. Some studies also suggest a marginal, non-significant increase in type 2 diabetes risk, highlighting the complex pleiotropic nature of the HNF1B gene [5]. Researchers continue to investigate how these distinct tissue-specific effects are regulated. For most people, maintaining routine health screenings remains the most practical approach. Understanding these genetic patterns helps paint a clearer picture of personal baseline health.
Lower risk of prostate cancer; Slightly higher liver enzyme levels.
Sample genotype: AG (Heterozygous)
A combination of one protective A allele and one risk-associated G allele places the risk level for prostate cancer at the population average [1]. This intermediate status is well-documented in multi-ethnic genetic studies, showing a moderate risk reduction compared to the G/G genotype [2]. The HNF1B gene is highly active in epithelial tissues, and having one copy of each allele maintains typical gene regulation [3]. Liver enzyme levels, such as gamma-glutamyl transferase, are expected to be in the typical range [4]. Overall metabolic health and diabetes risk are also typical, as the marginal effects of the HNF1B variants are balanced [5]. This balance means that neither the protective nor the risk-increasing effects are fully pronounced. Standard lifestyle factors and routine medical checkups play a much larger role in overall health outcomes for this group. Genetic counseling is generally not indicated for this common intermediate profile.
Typical risk of prostate cancer; Typical liver enzyme levels.
Sample genotype: GG (Homozygous)
Baseline risk for prostate cancer is slightly higher for the G/G genotype compared to carriers of the protective A allele [1]. Large-scale genome-wide association studies have identified the G allele as the risk-increasing allele for prostate malignancies [2]. This increased risk is believed to stem from altered transcription factor activity of the HNF1B protein in prostate cells [3]. On the other hand, this genotype is associated with slightly lower levels of the liver enzyme gamma-glutamyl transferase [4]. Metabolic profiles and type 2 diabetes risk remain at the typical baseline level for this genotype [5]. Because this is the most common genetic profile globally, it represents the standard reference point for risk calculations.
Slightly higher risk of prostate cancer; Typical liver enzyme levels.
Variants with shared genetic architecture
rs17138478 · HNF1B Gene · Chr 17 · Stomach Cancer Risk
rs4430796 · HNF1B Gene · Chr 17 · Cancer and Diabetes Risk
rs7501939 · HNF1B Gene · Chr 17 · Prostate Cancer and Diabetes
Large-scale fine mapping of the HNF1B locus and prostate cancer 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