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rs4430796

From SNPedia

Orientationplus
Stabilizedplus
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
Chromosome17
Position37738049
GeneHNF1B
is asnp
is mentioned by
dbSNPrs4430796
ebirs4430796
HLIrs4430796
Exacrs4430796
Varsomers4430796
Maprs4430796
PheGenIrs4430796
hapmaprs4430796
1000 genomesrs4430796
hgdprs4430796
ensemblrs4430796
gopubmedrs4430796
geneviewrs4430796
scholarrs4430796
googlers4430796
pharmgkbrs4430796
gwascentralrs4430796
openSNPrs4430796
23andMers4430796
23andMe allrs4430796
SNP Nexus

SNPshotrs4430796
SNPdbers4430796
MSV3drs4430796
GWAS Ctlgrs4430796
GMAF0.4656
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

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]
OMIM176807
DescPROSTATE CANCER
Variant
Relatedalso
OMIM611955
DescPROSTATE CANCER, HEREDITARY, 11; HPC11
Variant
Relatedalso
OMIM125853
DescDIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
Variant
Relatedalso
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]
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 21499250OA-icon.png]
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 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
rs4430796
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.507812
summary



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]