|(A;A)||2.1||1.38x increased risk for prostate cancer|
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
[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.
|Title||Multiple loci identified in a genome-wide association study of prostate cancer|
|Odds Ratio||1.18 [1.04-1.32]|
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|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
|Trait||Type 2 diabetes|
|Title||Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis|
|Odds Ratio||1.14 [1.08-1.20]|
[PMID 20651075] Prostate Cancer Susceptibility Variants Confer Increased Risk of Disease Progression
|Title||Genetic Correction of PSA Values Using Sequence Variants Associated with PSA Levels|
|Odds Ratio||9.4000 [NR] % increase|
|Title||Genome-wide association study identifies a common variant associated with risk of endometrial cancer.|
|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
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[PMID 22299039] HNF1B and Endometrial Cancer Risk: Results from the PAGE study
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[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.
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[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?
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[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().
|qualified_impact||Insufficiently evaluated pathogenic|
|Trait||Type 2 diabetes|
|Title||A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.|
|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
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[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
|Trait||Type 2 diabetes|
|Title||Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.|
|Odds Ratio||1.13 [1.07-1.09]|
|Trait||Type 2 diabetes|
|Title||Genome-wide association study identifies three novel loci for type 2 diabetes.|
|Odds Ratio||1.11 [1.06-1.16]|