rs4430796

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	2.1	1.38x increased risk for prostate cancer
(A;G)	0	normal risk
(G;G)	0	normal risk

Reference

GRCh38 38.1/141

Chromosome

17

Position

37738049

Gene

HNF1B

is a	snp
is	mentioned by
dbSNP	rs4430796
dbSNP (classic)	rs4430796
ClinGen	rs4430796
ebi	rs4430796
HLI	rs4430796
Exac	rs4430796
Gnomad	rs4430796
Varsome	rs4430796
LitVar	rs4430796
Map	rs4430796
PheGenI	rs4430796
Biobank	rs4430796
1000 genomes	rs4430796
hgdp	rs4430796
ensembl	rs4430796
geneview	rs4430796
scholar	rs4430796
google	rs4430796
pharmgkb	rs4430796
gwascentral	rs4430796
openSNP	rs4430796
23andMe	rs4430796
SNPshot	rs4430796
SNPdbe	rs4430796
MSV3d	rs4430796
GWAS Ctlg	rs4430796

GMAF

0.4656

Max Magnitude

2.1

?	(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 18701471] 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] rs4430796 identified as one of three HNF1B gene SNPs associated with decreased risk for prostate cancer in two large prospective studies

GWAS
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]

OMIM	176807
Desc	PROSTATE CANCER
Variant
Related	also

OMIM	611955
Desc	PROSTATE CANCER, HEREDITARY, 11; HPC11
Variant
Related	also

OMIM	125853
Desc	DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
Variant
Related	also

GWAS snp
PMID	[PMID 19767754]
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 20203524] Genetic Susceptibility to Type 2 Diabetes Is Associated with Reduced Prostate Cancer Risk

GWAS snp
PMID	[PMID 20581827]
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 20651075] Prostate Cancer Susceptibility Variants Confer Increased Risk of Disease Progression

GWAS snp
PMID	[PMID 21160077]
Trait
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 21499250]
Trait
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 21959049] 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 21576123] Large-scale fine mapping of the HNF1B locus and prostate cancer risk

[PMID 22299039] HNF1B and Endometrial Cancer Risk: Results from the PAGE study

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

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

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

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

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

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

[PMID 19096518] 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 19104501] Prostate cancer genomics: towards a new understanding.

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

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

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

[PMID 19324937] 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 19341491] Genome-based prediction of common diseases: methodological considerations for future research.

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

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

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

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

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

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

[PMID 19549807] Prostate cancer risk associated loci in African Americans.

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

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

[PMID 19862325] 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 20039378] Estimation of genotype relative risks from pedigree data by retrospective likelihoods.

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

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

[PMID 20161779] 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 20509872] 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 20569440] 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 20826827] Context-dependent effects of genome-wide association study genotypes and macroenvironment on time to biochemical (prostate specific antigen) failure after prostatectomy.

[PMID 21278902] Genetic risk profiling for prediction of type 2 diabetes.

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

[PMID 21538423] 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().

Prostate-Specific Antigen

GWAS snp
PMID	[PMID 22961080]
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 23937305] 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 23246478] Personalized prostate specific antigen testing using genetic variants may reduce unnecessary prostate biopsies.

[PMID 23462794] 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 24509480]
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]