{{Rsnum
|rsid=1111875
|Chromosome=10
|position=94462882
|Orientation=minus
|GMAF=0.4417
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 16.8 | 49.6 | 33.6
| HCB | 43.8 | 44.5 | 11.7
| JPT | 48.7 | 36.3 | 15.0
| YRI | 1.4 | 21.3 | 77.3
| ASW | 7.0 | 31.6 | 61.4
| CHB | 43.8 | 44.5 | 11.7
| CHD | 47.7 | 42.2 | 10.1
| GIH | 32.7 | 52.5 | 14.9
| LWK | 0.9 | 34.9 | 64.2
| MEX | 6.9 | 58.6 | 34.5
| MKK | 4.6 | 38.4 | 57.0
| TSI | 19.6 | 41.2 | 39.2
| HapMapRevision=28
}}[[rs1111875]] is a SNP of the [[HHEX]] homeobox gene. In several studies, it has been associated with risk for [[type-2 diabetes]] (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}} 

{{PMID|18477659}} [[rs1111875]] replicated as significant for [[type-2 diabetes]] risk in 1,900 Japanese patients, with odds ratio of 1.27 (CI: 1.14-1.40, p = 1.4 x 10e-5)

{{PMID|18437351}} 1,638 [[type 2 diabetes]] patients and 1,858 controls
*[[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

{{GWAS Summary
|SNP=rs1111875
|PubMedID=17293876
|Condition=Type 2 diabetes
|Gene=HHEX
|Risk Allele=G
|pValue=3.00E-006
|OR=1.19
|95CI=0.82-1.56
}}
{{PMID Auto
|PMID=19258437
|Title=A Genetic Variant in the IGF2BP2 Gene may Interact with Fetal Malnutrition on Glucose Metabolism.
|OA=1
}}

{{PMID Auto GWAS
|PMID=17463246
|Trait=Type 2 diabetes
|Title=Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
|RiskAllele=C
|Pval=6E-10
|OR=1.13
|ORtxt=[1.08-1.17]
}}
{{PMID Auto GWAS
|PMID=17463248
|Trait=Type 2 diabetes
|Title=A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
|RiskAllele=C
|Pval=6E-10
|OR=1.13
|ORtxt=[1.09-1.17]
|OA=1
}}
{{PMID Auto GWAS
|PMID=19401414
|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
|RiskAllele=C
|Pval=7E-12
|OR=1.21
|ORtxt=[1.15-1.28]
|OA=1
}}

{{omim
|desc=DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
|id=125853
|rsnum=1111875
}}

{{PharmGKB
|RSID=rs1111875
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17293876; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: A genome-wide association study identifies novel risk loci for type 2 diabetes (Initial Sample Size: 1,380 cases, 1,323 controls; Replication Sample Size: 2,617 cases, 2,894 controls; Risk Allele: rs1111875-G).
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 2
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356599
}}
{{PMID Auto
|PMID=20041287
|Title=Polymorphisms of TCF7L2 and HHEX genes in Chinese women with polycystic ovary syndrome
|OA=1
}}

{{PMID Auto
|PMID=20490451
|Title=Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight
}}
{{PMID Auto
|PMID=20647405
|Title=No Association between FTO or HHEX and Endometrial Cancer Risk
|OA=1
}}

{{PharmGKB
|RSID=rs1111875
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17463246
|Annotation=rs1111875 demonstrated association with Type 2 Diabetes in a GWAS of Finnish and Swedish patients and controls.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 2
|Curation Level=Curated
|PharmGKB Accession ID=PA162168099
}}

{{PharmGKB
|RSID=rs1111875
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:18544707
|Annotation=This variant may be associated with decreased insulin sensitivity in carriers of the risk genotype.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 2
|Curation Level=Curated
|PharmGKB Accession ID=PA161748505
}}

{{PharmGKB
|RSID=rs1111875
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17463249
|Annotation=In a case-control study on subjects from the UK, rs1111875 was shown to be associated with susceptibility to Type 2 Diabetes.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 2
|Curation Level=Curated
|PharmGKB Accession ID=PA162191336
}}

{{PharmGKB
|RSID=rs1111875
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17463248
|Annotation=In a large Finnish case-control GWAS, rs1111875 was found to be associated with susceptibility to Type 2 Diabetes.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 2
|Curation Level=Curated
|PharmGKB Accession ID=PA162191361
}}
{{PMID Auto
|PMID=21059810
|Title=Meta-analysis of the effect of HHEX gene polymorphism on the risk of type 2 diabetes
}}

{{PMID Auto
|PMID=20927120
|Title=Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese
}}

{{PMID Auto
|PMID=21510814
|Title=Association of Genetic Variations in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 with Type 2 Diabetes Mellitus in Tunisia
}}

{{PMID Auto
|PMID=22506066
|Title=Genetic Variants of IDE-KIF11-HHEX at 10q23.33 Associated with Type 2 Diabetes Risk: A Fine-Mapping Study in Chinese Population
|OA=1
}}

{{PMID Auto
|PMID=22569928
|Title=Analysis of common type 2 diabetes mellitus genetic risk factors in new-onset diabetes after transplantation in kidney transplant patients medicated with tacrolimus
|OA=1
}}

{{PMID Auto
|PMID=17786204
|Title=Polymorphisms within novel risk loci for type 2 diabetes determine beta-cell function.
|OA=1
}}

{{PMID Auto
|PMID=17786212
|Title=Heterogeneity in meta-analyses of genome-wide association investigations.
|OA=1
}}

{{PMID Auto
|PMID=17827400
|Title=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 Auto
|PMID=17928989
|Title=Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population.
}}

{{PMID Auto
|PMID=18039816
|Title=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 Auto
|PMID=18224312
|Title=Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
|OA=1
}}

{{PMID Auto
|PMID=18264689
|Title=Polymorphisms in the TCF7L2, CDKAL1 and SLC30A8 genes are associated with impaired proinsulin conversion.
}}

{{PMID Auto
|PMID=18423522
|Title=Estimating odds ratios in genome scans: an approximate conditional likelihood approach.
|OA=1
}}

{{PMID Auto
|PMID=18426861
|Title=Association analysis of type 2 diabetes Loci in type 1 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=18443202
|Title=Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies.
|OA=1
}}

{{PMID Auto
|PMID=18461161
|Title=Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.
|OA=1
}}

{{PMID Auto
|PMID=18469204
|Title=Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians.
|OA=1
}}

{{PMID Auto
|PMID=18533027
|Title=Worldwide population differentiation at disease-associated SNPs.
|OA=1
}}

{{PMID Auto
|PMID=18556337
|Title=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).
|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=18633108
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=18689899
|Title=Exchangeable models of complex inherited diseases.
|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=18782870
|Title=Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008.
|OA=1
}}

{{PMID Auto
|PMID=18852197
|Title=Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.
|OA=1
}}

{{PMID Auto
|PMID=18991055
|Title=Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population.
}}

{{PMID Auto
|PMID=19001172
|Title=Analyses of the National Institute on Aging Late-Onset Alzheimer's Disease Family Study: implication of additional loci.
|OA=1
}}

{{PMID Auto
|PMID=19002430
|Title=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 Auto
|PMID=19008344
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=19020323
|Title=Genotype score in addition to common risk factors for prediction of type 2 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=19033397
|Title=Replication study of candidate genes associated with type 2 diabetes based on genome-wide screening.
|OA=1
}}

{{PMID Auto
|PMID=19056611
|Title=Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.
|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=19161620
|Title=An open access database of genome-wide association results.
|OA=1
}}

{{PMID Auto
|PMID=19228808
|Title=Type 2 diabetes risk alleles are associated with reduced size at birth.
|OA=1
}}

{{PMID Auto
|PMID=19279076
|Title=Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men.
|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=19455305
|Title=No association of multiple type 2 diabetes loci with type 1 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=19460916
|Title=Genetic architecture of type 2 diabetes: recent progress and clinical implications.
|OA=1
}}

{{PMID Auto
|PMID=19502414
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=19615048
|Title=Type 2 diabetes gene TCF7L2 polymorphism is not associated with fetal and postnatal growth in two birth cohort studies.
|OA=1
}}

{{PMID Auto
|PMID=19741467
|Title=Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea.
}}

{{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
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|Title=How many genetic variants remain to be discovered?
|OA=1
}}

{{PMID Auto
|PMID=20017978
|Title=Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.
|OA=1
}}

{{PMID Auto
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|Title=The effect of multiple genetic variants in predicting the risk of type 2 diabetes.
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}}

{{PMID Auto
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|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
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|Title=Association between type 2 diabetes loci and measures of fatness.
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}}

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

{{PMID Auto
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|Title=Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.
|OA=1
}}

{{PMID Auto
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|OA=1
}}

{{PMID Auto
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|Title=A strategy for analyzing gene-nutrient interactions in type 2 diabetes.
|OA=1
}}

{{PMID Auto
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|Title=A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.
|OA=1
}}

{{PMID Auto
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|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=20424228
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=20532014
|Title=The epidemiology of diabetes in Korea: from the economics to genetics.
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}}

{{PMID Auto
|PMID=20550665
|Title=Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population.
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}}

{{PMID Auto
|PMID=20712903
|Title=Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
|OA=1
}}

{{PMID Auto
|PMID=21056935
|Title=Quantitative assessment of the influence of hematopoietically expressed homeobox variant (rs1111875) on type 2 diabetes risk.
}}

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

{{PMID Auto
|PMID=21283728
|Title=Genetic variants of diabetes risk and incident cardiovascular events in chronic coronary artery disease.
|OA=1
}}

{{PMID Auto
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|OA=1
}}

{{PMID Auto
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|Title=Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.
}}

{{PMID Auto
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}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1111875
|overall_frequency_n=43
|overall_frequency_d=126
|overall_frequency=0.34127
|n_genomes=30
|n_genomes_annotated=0
|n_haplomes=39
|n_articles=4
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=22438186
|Title=A SNP in G6PC2 predicts insulin secretion in type 1 diabetes
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Illumina Human 1M}}