|(A;A)||0||1x normal risk of T2D|
In a study of 500 unrelated Caucasian T2D patients, the rs1111875(G) allele was overrepresented; the odds ratio was 1.68 (CI: 1.19-2.35, p=0.003). In this population, the population attributable risk for this allele was estimated to be 36%.[PMID 18231124]
In a study of ~400 Japanese, rs1111875(G) was also associated with type-2 diabetes (odds ratio 1.42, CI: 1.13-1.78, p=0.0024). Heterozygous and homozygous carriers of the risk allele had odds ratios of 1.31 (CI: 0.97-1.77, p=0.0810) and 2.40 (CI: 1.34-4.32, p=0.0028) relative to non-carriers.[PMID 17971426]
And in a third study, 1,630 Japanese patients were also found to have this SNP significantly overrepresented (p=0.0064).[PMID 18162508]
- rs1111875 non-significant
[PMID 19117022] rs7923837 and rs1111875 were significantly associated with decreased insulin secretion and lower insulinogenic index. Reduced insulin clearance was also observed in heterozygous carriers of rs1111875
|Condition||Type 2 diabetes|
[PMID 19258437] A Genetic Variant in the IGF2BP2 Gene may Interact with Fetal Malnutrition on Glucose Metabolism.
|Trait||Type 2 diabetes|
|Title||Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels|
|Odds Ratio||1.13 [1.08-1.17]|
|Trait||Type 2 diabetes|
|Title||A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants|
|Odds Ratio||1.13 [1.09-1.17]|
|Trait||Type 2 diabetes|
|Title||Confirmation of multiple risk loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population|
|Odds Ratio||1.21 [1.15-1.28]|
[PMID 20490451] Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight
[PMID 20647405] No Association between FTO or HHEX and Endometrial Cancer Risk
[PMID 21059810] Meta-analysis of the effect of HHEX gene polymorphism on the risk of type 2 diabetes
[PMID 20927120] Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese
[PMID 21510814] Association of Genetic Variations in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 with Type 2 Diabetes Mellitus in Tunisia
[PMID 22506066] Genetic Variants of IDE-KIF11-HHEX at 10q23.33 Associated with Type 2 Diabetes Risk: A Fine-Mapping Study in Chinese Population
[PMID 22569928] Analysis of common type 2 diabetes mellitus genetic risk factors in new-onset diabetes after transplantation in kidney transplant patients medicated with tacrolimus
[PMID 17786204] Polymorphisms within novel risk loci for type 2 diabetes determine beta-cell function.
[PMID 17786212] Heterogeneity in meta-analyses of genome-wide association investigations.
[PMID 17827400] Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies.
[PMID 17928989] Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population.
[PMID 18039816] A candidate type 2 diabetes polymorphism near the HHEX locus affects acute glucose-stimulated insulin release in European populations: results from the EUGENE2 study.
[PMID 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
[PMID 18264689] Polymorphisms in the TCF7L2, CDKAL1 and SLC30A8 genes are associated with impaired proinsulin conversion.
[PMID 18423522] Estimating odds ratios in genome scans: an approximate conditional likelihood approach.
[PMID 18426861] Association analysis of type 2 diabetes Loci in type 1 diabetes.
[PMID 18443202] Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies.
[PMID 18461161] Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.
[PMID 18469204] Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians.
[PMID 18533027] Worldwide population differentiation at disease-associated SNPs.
[PMID 18556337] Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1).
[PMID 18591388] Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
[PMID 18633108] Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population.
[PMID 18689899] Exchangeable models of complex inherited diseases.
[PMID 18694974] Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.
[PMID 18782870] Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008.
[PMID 18852197] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.
[PMID 18991055] Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population.
[PMID 19001172] Analyses of the National Institute on Aging Late-Onset Alzheimer's Disease Family Study: implication of additional loci.
[PMID 19002430] Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population.
[PMID 19008344] Association analysis of variation in/near FTO, CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, LOC387761, and CDKN2B with type 2 diabetes and related quantitative traits in Pima Indians.
[PMID 19020323] Genotype score in addition to common risk factors for prediction of type 2 diabetes.
[PMID 19033397] Replication study of candidate genes associated with type 2 diabetes based on genome-wide screening.
[PMID 19056611] Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.
[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 19161620] An open access database of genome-wide association results.
[PMID 19228808] Type 2 diabetes risk alleles are associated with reduced size at birth.
[PMID 19279076] Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men.
[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 19455305] No association of multiple type 2 diabetes loci with type 1 diabetes.
[PMID 19460916] Genetic architecture of type 2 diabetes: recent progress and clinical implications.
[PMID 19502414] Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men.
[PMID 19615048] Type 2 diabetes gene TCF7L2 polymorphism is not associated with fetal and postnatal growth in two birth cohort studies.
[PMID 19741467] Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea.
[PMID 19862325] PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.
[PMID 19956539] How many genetic variants remain to be discovered?
[PMID 20017978] Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.
[PMID 20018041] The effect of multiple genetic variants in predicting the risk of type 2 diabetes.
[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 20049090] Association between type 2 diabetes loci and measures of fatness.
[PMID 20075150] Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.
[PMID 20080751] Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.
[PMID 20126254] Rare variants create synthetic genome-wide associations.
[PMID 20144318] A strategy for analyzing gene-nutrient interactions in type 2 diabetes.
[PMID 20144327] A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.
[PMID 20161779] Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.
[PMID 20424228] Impact of common variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the risk of type 2 diabetes in 5,164 Indians.
[PMID 20532014] The epidemiology of diabetes in Korea: from the economics to genetics.
[PMID 20550665] Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population.
[PMID 20712903] Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
[PMID 21056935] Quantitative assessment of the influence of hematopoietically expressed homeobox variant (rs1111875) on type 2 diabetes risk.
[PMID 21278902] Genetic risk profiling for prediction of type 2 diabetes.
[PMID 21283728] Genetic variants of diabetes risk and incident cardiovascular events in chronic coronary artery disease.
[PMID 22237986] Genetic susceptibility to type 2 diabetes and breast cancer risk in women of European and African ancestry.
[PMID 22377712] Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.
[PMID 23036584] Discovery by the Epistasis Project of an epistatic interaction between the GSTM3 gene and the HHEX/IDE/KIF11 locus in the risk of Alzheimer's disease
|qualified_impact||Insufficiently evaluated pathogenic|
[PMID 22438186] A SNP in G6PC2 predicts insulin secretion in type 1 diabetes
|Trait||Type 2 diabetes|
|Title||Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.|
|Odds Ratio||1.15 [1.11-1.19]|
|Trait||Type 2 diabetes|
|Title||Genome-wide association study identifies three novel loci for type 2 diabetes.|
|Odds Ratio||1.14 [1.09-1.20]|
[PMID 26299860] [The HHEX rs1111875A/G gene polymorphism is associated with susceptibility to type 2 diabetes in the Iranian population]
[PMID 27310578] Replication and Relevance of Multiple Susceptibility Loci Discovered from Genome Wide Association Studies for Type 2 Diabetes in an Indian Population.