{{Rsnum
|rsid=4430796
|Gene=HNF1B
|Chromosome=17
|position=37738049
|Orientation=plus
|GMAF=0.4656
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=HNF1B
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 19.5 | 59.3 | 21.2
| HCB | 57.7 | 35.0 | 7.3
| JPT | 42.0 | 47.3 | 10.7
| YRI | 8.9 | 50.0 | 41.1
| ASW | 12.3 | 56.1 | 31.6
| CHB | 57.7 | 35.0 | 7.3
| CHD | 52.3 | 40.4 | 7.3
| GIH | 43.6 | 50.5 | 5.9
| LWK | 6.5 | 38.0 | 55.6
| MEX | 33.3 | 59.6 | 7.0
| MKK | 5.8 | 38.5 | 55.8
| TSI | 20.6 | 51.0 | 28.4
| HapMapRevision=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.{{doi|10.1056/NEJMoa075819}}

[http://www.cancerpage.com/news/article.asp?id=11059 article] linking to [[Prostate cancer]] and [[type-2 diabetes]]

{{PMID|18701471|OA=1
}} 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|19998368|OA=1
}} [[rs4430796]] identified as one of three [[HNF1B]] gene SNPs associated with decreased risk for [[prostate cancer]] in two large prospective studies 

{{GWAS Summary
|SNP=rs4430796
|PubMedID=17603485
|Condition=Prostate cancer
|Gene=TCF2
|Risk Allele=A
|pValue=1.00E-011
|OR=1.22
|95CI=1.15-1.30
}}

{{PMID Auto GWAS
|PMID=18264096
|Trait=Prostate cancer
|Title=Multiple loci identified in a genome-wide association study of prostate cancer
|RiskAllele=A
|Pval=1.0000000000000001E-9
|OR=1.18
|ORtxt=[1.04-1.32]
}}

{{omim
|desc=PROSTATE CANCER
|id=176807
|rsnum=4430796
}}

{{omim
|desc=PROSTATE CANCER, HEREDITARY, 11; HPC11
|id=611955
|rsnum=4430796
}}

{{omim
|desc=DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
|id=125853
|rsnum=4430796
}}
{{PMID Auto GWAS
|PMID=19767754
|Trait=Prostate cancer
|Title=Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility
|RiskAllele=A
|Pval=0.000008
|OR=1.19
|ORtxt=[1.10-1.28]
|OA=1
}}
{{PMID Auto
|PMID=19726753
|Title=Replication of prostate cancer risk loci in a Japanese case-control association study
}}

{{PharmGKB
|RSID=rs4430796
|Name_s=
|Gene_s=HNF1B
|Feature=
|Evidence=PubMed ID:17603485
|Annotation=The A allele of rs4430796 contributes to the risk of prostate cancer in four populations of European descent and has a protective affect against Type 2 Diabetes.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 2; Prostatic Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA162356122
}}

{{PMID Auto
|PMID=20203524
|Title=Genetic Susceptibility to Type 2 Diabetes Is Associated with Reduced Prostate Cancer Risk
|OA=1
}}

{{PMID Auto GWAS
|PMID=20581827
|Trait=Type 2 diabetes
|Title=Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
|RiskAllele=G
|Pval=0.000002
|OR=1.14
|ORtxt=[1.08-1.20]
|OA=1
}}
{{PMID Auto
|PMID=20651075
|Title=Prostate Cancer Susceptibility Variants Confer Increased Risk of Disease Progression
|OA=1
}}

{{PharmGKB
|RSID=rs4430796
|Name_s=
|Gene_s=HNF1B
|Feature=
|Evidence=PubMed ID:18758462
|Annotation=In a fine-mapping study in the HNF1B gene at 17q12 this variant was associated with prostate cancer risk.
|Drugs=
|Drug Classes=
|Diseases=Prostatic Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA162355653
}}

{{PharmGKB
|RSID=rs4430796
|Name_s=
|Gene_s=HNF1B
|Feature=
|Evidence=PubMed ID:17603485; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes (Initial Sample Size: 1,501 cases, 11,290 controls; Replication Sample Size: 1,992 cases, 3,058 controls; Risk Allele: rs4430796-A).
|Drugs=
|Drug Classes=
|Diseases=Prostatic Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356667
}}

{{PMID Auto GWAS
|PMID=21160077
|Trait=None
|Title=Genetic Correction of PSA Values Using Sequence Variants Associated with PSA Levels
|RiskAllele=A
|Pval=6E-11
|OR=9.4000
|ORtxt=[NR] % increase
|OA=1
}}

{{PMID Auto GWAS
|PMID=21499250
|Trait=None
|Title=Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
|RiskAllele=A
|Pval=7E-10
|OR=1.1900
|ORtxt=[1.12-1.27]
|OA=1
}}

{{PMID Auto
|PMID=21959049
|Title=Association between single nucleotide polymorphisms on chromosome 17q and the risk of prostate cancer in a Chinese population
|OA=1
}}

{{PMID Auto
|PMID=21982019
|Title=HNF1B Polymorphism Associated With Development of Prostate Cancer in Korean Patients
}}

{{PMID Auto
|PMID=21576123
|Title=Large-scale fine mapping of the HNF1B locus and prostate cancer risk
|OA=1
}}

{{PMID Auto
|PMID=22299039
|Title=HNF1B and Endometrial Cancer Risk: Results from the PAGE study
|OA=1
}}

{{PMID Auto
|PMID=22144497
|Title=Assessing the clinical role of genetic markers of early-onset prostate cancer among high-risk men enrolled in prostate cancer early detection
|OA=1
}}

{{PMID Auto
|PMID=18491292
|Title=Cumulative effect of five genetic variants on prostate cancer risk in multiple study populations.
|OA=1
}}

{{PMID Auto
|PMID=18591388
|Title=Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
|OA=1
}}

{{PMID Auto
|PMID=18694974
|Title=Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.
|OA=1
}}

{{PMID Auto
|PMID=18794092
|Title=Association of prostate cancer risk variants with clinicopathologic characteristics of the disease.
|OA=1
}}

{{PMID Auto
|PMID=19058137
|Title=Clinical utility of five genetic variants for predicting prostate cancer risk and mortality.
|OA=1
}}

{{PMID Auto
|PMID=19096518
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=19104501
|Title=Prostate cancer genomics: towards a new understanding.
|OA=1
}}

{{PMID Auto
|PMID=19117981
|Title=Sequence variants at 22q13 are associated with prostate cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19168595
|Title=Common variants of hepatocyte nuclear factor 1beta are associated with type 2 diabetes in a Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=19318432
|Title=Generalizability of associations from prostate cancer genome-wide association studies in multiple populations.
|OA=1
}}

{{PMID Auto
|PMID=19324937
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=19341491
|Title=Genome-based prediction of common diseases: methodological considerations for future research.
|OA=1
}}

{{PMID Auto
|PMID=19366828
|Title=Evaluation of 8q24 and 17q risk loci and prostate cancer mortality.
|OA=1
}}

{{PMID Auto
|PMID=19366831
|Title=Analysis of recently identified prostate cancer susceptibility loci in a population-based study: associations with family history and clinical features.
|OA=1
}}

{{PMID Auto
|PMID=19371897
|Title=Pathological outcomes associated with the 17q prostate cancer risk variants.
|OA=1
}}

{{PMID Auto
|PMID=19434657
|Title=Individual and cumulative effect of prostate cancer risk-associated variants on clinicopathologic variables in 5,895 prostate cancer patients.
|OA=1
}}

{{PMID Auto
|PMID=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=19526209
|Title=Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
|OA=1
}}

{{PMID Auto
|PMID=19549807
|Title=Prostate cancer risk associated loci in African Americans.
|OA=1
}}

{{PMID Auto
|PMID=19627283
|Title=Does diabetes mellitus modify the association between 17q12 risk variant and prostate cancer aggressiveness?
|OA=1
}}

{{PMID Auto
|PMID=19727433
|Title=Cancer genetic association studies in the genome-wide age.
|OA=1
}}

{{PMID Auto
|PMID=19862325
|Title=PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=20026053
|Title=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 Auto
|PMID=20039378
|Title=Estimation of genotype relative risks from pedigree data by retrospective likelihoods.
|OA=1
}}

{{PMID Auto
|PMID=20043853
|Title=Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus.
|OA=1
}}

{{PMID Auto
|PMID=20075150
|Title=Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.
|OA=1
}}

{{PMID Auto
|PMID=20161779
|Title=Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.
|OA=1
}}

{{PMID Auto
|PMID=20450899
|Title=Individual and cumulative association of prostate cancer susceptibility variants with clinicopathologic characteristics of the disease.
}}

{{PMID Auto
|PMID=20509872
|Title=Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=20569440
|Title=Alterations in LMTK2, MSMB and HNF1B gene expression are associated with the development of prostate cancer.
|OA=1
}}

{{PMID Auto
|PMID=20690139
|Title=Meta-analysis of genome-wide and replication association studies on prostate cancer.
}}

{{PMID Auto
|PMID=20826827
|Title=Context-dependent effects of genome-wide association study genotypes and macroenvironment on time to biochemical (prostate specific antigen) failure after prostatectomy.
|OA=1
}}

{{PMID Auto
|PMID=21278902
|Title=Genetic risk profiling for prediction of type 2 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=21390317
|Title=Characterizing associations and SNP-environment interactions for GWAS-identified prostate cancer risk markers--results from BPC3.
|OA=1
}}

{{PMID Auto
|PMID=21538423
|Title=Early onset prostate cancer has a significant genetic component.
|OA=1
}}

{{PMID Auto
|PMID=21557267
|Title=A replication study examining three common single-nucleotide polymorphisms and the risk of prostate cancer in a Japanese population.
}}

{{PMID Auto
|PMID=22561070
|Title=8q24 and 17q Prostate cancer susceptibility loci in a multiethnic Asian cohort().
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4430796
|overall_frequency_n=65
|overall_frequency_d=128
|overall_frequency=0.507812
|n_genomes=40
|n_genomes_annotated=0
|n_haplomes=53
|n_articles=2
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

[[Prostate-Specific Antigen]]

{{PMID Auto GWAS
  |PMID=22961080
  |Trait=Type 2 diabetes
  |Title=A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
  |RiskAllele=G
  |Pval=2E-11
  |OR=1.19
  |ORtxt=[1.13-1.25]
  |OA=1
}}

{{PMID Auto
|PMID=23937305
|Title=Validation of association of genetic variants at 10q with prostate-specific antigen (PSA) levels in men at high risk for prostate cancer
}}

{{PMID Auto
|PMID=24037955
|Title=The presence of prostate cancer at biopsy is predicted by a number of genetic variants
}}

{{PMID Auto
|PMID=23246478
|Title=Personalized prostate specific antigen testing using genetic variants may reduce unnecessary prostate biopsies.
|OA=1
}}

{{PMID Auto
|PMID=23462794
|Title=Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets.
|OA=1
}}

{{PMID Auto
|PMID=25177939
|Title=Racial disparities in the association between diabetes mellitus-associated polymorphic locus rs4430796 of the HNF1βgene and prostate cancer: a systematic review and meta-analysis
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}