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From SNPedia

Geno Mag Summary
(A;A) 2.1 1.38x increased risk for prostate cancer
(A;G) 0 normal risk
(G;G) 0 normal risk
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs4430796
23andMe allrs4430796
SNP Nexus

GWAS Ctlgrs4430796
Max Magnitude2.1
? (A;A) (A;G) (G;G) 28
rs4430796 is a SNP in the TCF2 gene on chromosome 17q12, associated with increased risk for prostate cancer in several studies.

In a study of over 3,600 Caucasians with prostate cancer, rs4430796 is one of five SNPs used (with family history as a sixth factor) to cumulatively predict overall risk. On its own, the rs4430796(A;A) risk genotype - in dbSNP orientation, not as published - yields an odds ratio for developing prostate cancer of 1.38 (CI: 1.21-1.57, p=1.6x10e-6) and may account for 10.2% of population attributable risk.10.1056/NEJMoa075819

article linking to Prostate cancer and type-2 diabetes

[PMID 18701471OA-icon.png] 403 non-Hispanic white families were studied, totaling 1,015 men, to reach the conclusion that the rs4430796(A) allele is associated with increased prostate cancer risk; the odds ratio was 1.40 (CI: 1.09-1.81) under an additive genetic model. Notably, rs4430796(A) was significantly associated with prostate cancer among men diagnosed at an early (<50 years) but not later age (P = 0.006 versus P = 0.118). The increased risk associated with rs4430796 and the closely linked rs7501939 is approximately doubled in individuals hereditarily predisposed to develop early-onset prostate cancer.

[PMID 19998368OA-icon.png] rs4430796 identified as one of three HNF1B gene SNPs associated with decreased risk for prostate cancer in two large prospective studies

SNP rs4430796
PubMedID [PMID 17603485]
Condition Prostate cancer
Gene TCF2
Risk Allele A
pValue 1.00E-011
OR 1.22
95% CI 1.15-1.30

GWAS snp
PMID [PMID 18264096]
Trait Prostate cancer
Title Multiple loci identified in a genome-wide association study of prostate cancer
Risk Allele A
P-val 1.0000000000000001E-9
Odds Ratio 1.18 [1.04-1.32]
GWAS snp
PMID [PMID 19767754OA-icon.png]
Trait Prostate cancer
Title Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility
Risk Allele A
P-val 0.000008
Odds Ratio 1.19 [1.10-1.28]

[PMID 19726753] Replication of prostate cancer risk loci in a Japanese case-control association study

[PMID 20203524OA-icon.png] Genetic Susceptibility to Type 2 Diabetes Is Associated with Reduced Prostate Cancer Risk

GWAS snp
PMID [PMID 20581827OA-icon.png]
Trait Type 2 diabetes
Title Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
Risk Allele G
P-val 0.000002
Odds Ratio 1.14 [1.08-1.20]

[PMID 20651075OA-icon.png] Prostate Cancer Susceptibility Variants Confer Increased Risk of Disease Progression

GWAS snp
PMID [PMID 21160077OA-icon.png]
Title Genetic Correction of PSA Values Using Sequence Variants Associated with PSA Levels
Risk Allele A
P-val 6E-11
Odds Ratio 9.4000 [NR] % increase
GWAS snp
PMID [PMID 21499250OA-icon.png]
Title Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
Risk Allele A
P-val 7E-10
Odds Ratio 1.1900 [1.12-1.27]

[PMID 21959049OA-icon.png] Association between single nucleotide polymorphisms on chromosome 17q and the risk of prostate cancer in a Chinese population

[PMID 21982019] HNF1B Polymorphism Associated With Development of Prostate Cancer in Korean Patients

[PMID 21576123OA-icon.png] Large-scale fine mapping of the HNF1B locus and prostate cancer risk

[PMID 22299039OA-icon.png] HNF1B and Endometrial Cancer Risk: Results from the PAGE study

[PMID 22144497OA-icon.png] Assessing the clinical role of genetic markers of early-onset prostate cancer among high-risk men enrolled in prostate cancer early detection

[PMID 18491292OA-icon.png] Cumulative effect of five genetic variants on prostate cancer risk in multiple study populations.

[PMID 18591388OA-icon.png] Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.

[PMID 18694974OA-icon.png] Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.

[PMID 18794092OA-icon.png] Association of prostate cancer risk variants with clinicopathologic characteristics of the disease.

[PMID 19058137OA-icon.png] Clinical utility of five genetic variants for predicting prostate cancer risk and mortality.

[PMID 19096518OA-icon.png] Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.

[PMID 19104501OA-icon.png] Prostate cancer genomics: towards a new understanding.

[PMID 19117981OA-icon.png] Sequence variants at 22q13 are associated with prostate cancer risk.

[PMID 19168595OA-icon.png] Common variants of hepatocyte nuclear factor 1beta are associated with type 2 diabetes in a Chinese population.

[PMID 19318432OA-icon.png] Generalizability of associations from prostate cancer genome-wide association studies in multiple populations.

[PMID 19324937OA-icon.png] Previously associated type 2 diabetes variants may interact with physical activity to modify the risk of impaired glucose regulation and type 2 diabetes: a study of 16,003 Swedish adults.

[PMID 19341491OA-icon.png] Genome-based prediction of common diseases: methodological considerations for future research.

[PMID 19366828OA-icon.png] Evaluation of 8q24 and 17q risk loci and prostate cancer mortality.

[PMID 19366831OA-icon.png] Analysis of recently identified prostate cancer susceptibility loci in a population-based study: associations with family history and clinical features.

[PMID 19371897OA-icon.png] Pathological outcomes associated with the 17q prostate cancer risk variants.

[PMID 19434657OA-icon.png] Individual and cumulative effect of prostate cancer risk-associated variants on clinicopathologic variables in 5,895 prostate cancer patients.

[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

[PMID 19526209OA-icon.png] Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?

[PMID 19549807OA-icon.png] Prostate cancer risk associated loci in African Americans.

[PMID 19627283OA-icon.png] Does diabetes mellitus modify the association between 17q12 risk variant and prostate cancer aggressiveness?

[PMID 19727433OA-icon.png] Cancer genetic association studies in the genome-wide age.

[PMID 19862325OA-icon.png] PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.

[PMID 20026053] WITHDRAWN: Relationships between 8q24 and 17q risk loci and sporadic or latent prostate cancer and the impacts of these loci on the clinicopathologic characteristics of prostate cancer.

[PMID 20039378OA-icon.png] Estimation of genotype relative risks from pedigree data by retrospective likelihoods.

[PMID 20043853OA-icon.png] Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus.

[PMID 20075150OA-icon.png] Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.

[PMID 20161779OA-icon.png] Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.

[PMID 20450899] Individual and cumulative association of prostate cancer susceptibility variants with clinicopathologic characteristics of the disease.

[PMID 20509872OA-icon.png] Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population.

[PMID 20569440OA-icon.png] Alterations in LMTK2, MSMB and HNF1B gene expression are associated with the development of prostate cancer.

[PMID 20690139] Meta-analysis of genome-wide and replication association studies on prostate cancer.

[PMID 20826827OA-icon.png] Context-dependent effects of genome-wide association study genotypes and macroenvironment on time to biochemical (prostate specific antigen) failure after prostatectomy.

[PMID 21278902OA-icon.png] Genetic risk profiling for prediction of type 2 diabetes.

[PMID 21390317OA-icon.png] Characterizing associations and SNP-environment interactions for GWAS-identified prostate cancer risk markers--results from BPC3.

[PMID 21538423OA-icon.png] Early onset prostate cancer has a significant genetic component.

[PMID 21557267] A replication study examining three common single-nucleotide polymorphisms and the risk of prostate cancer in a Japanese population.

[PMID 22561070] 8q24 and 17q Prostate cancer susceptibility loci in a multiethnic Asian cohort().

GET Evidence
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.507812

Prostate-Specific Antigen

GWAS snp
PMID [PMID 22961080OA-icon.png]
Trait Type 2 diabetes
Title A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
Risk Allele G
P-val 2E-11
Odds Ratio 1.19 [1.13-1.25]

[PMID 23937305OA-icon.png] Validation of association of genetic variants at 10q with prostate-specific antigen (PSA) levels in men at high risk for prostate cancer

[PMID 24037955] The presence of prostate cancer at biopsy is predicted by a number of genetic variants

[PMID 23246478OA-icon.png] Personalized prostate specific antigen testing using genetic variants may reduce unnecessary prostate biopsies.

[PMID 23462794OA-icon.png] Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets.

[PMID 25177939] Racial disparities in the association between diabetes mellitus-associated polymorphic locus rs4430796 of the HNF1βgene and prostate cancer: a systematic review and meta-analysis

GWAS snp
PMID [PMID 24509480OA-icon.png]
Trait Type 2 diabetes
Title Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
Risk Allele G
P-val 9E-10
Odds Ratio 1.13 [1.07-1.09]
GWAS snp
PMID [PMID 23945395]
Trait Type 2 diabetes
Title Genome-wide association study identifies three novel loci for type 2 diabetes.
Risk Allele G
P-val 4E-6
Odds Ratio 1.11 [1.06-1.16]