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rs1111875

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 1x normal risk of T2D
(A;G)
(G;G)
(T;T) 0
ReferenceGRCh38 38.1/142
Chromosome10
Position92703125
is asnp
is mentioned by
dbSNPrs1111875
ebirs1111875
HLIrs1111875
Exacrs1111875
Varsomers1111875
Maprs1111875
PheGenIrs1111875
hapmaprs1111875
1000 genomesrs1111875
hgdprs1111875
ensemblrs1111875
gopubmedrs1111875
geneviewrs1111875
scholarrs1111875
googlers1111875
pharmgkbrs1111875
gwascentralrs1111875
openSNPrs1111875
23andMers1111875
23andMe allrs1111875
SNP Nexus

SNPshotrs1111875
SNPdbers1111875
MSV3drs1111875
GWAS Ctlgrs1111875
GMAF0.4417
Max Magnitude0
? (A;A) (A;G) (G;G) 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
SNP rs1111875
PubMedID [PMID 17293876]
Condition Type 2 diabetes
Gene HHEX
Risk Allele G
pValue 3.00E-006
OR 1.19
95% CI 0.82-1.56


[PMID 19258437OA-icon.png] A Genetic Variant in the IGF2BP2 Gene may Interact with Fetal Malnutrition on Glucose Metabolism.

GWAS snp
PMID [PMID 17463246]
Trait Type 2 diabetes
Title Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
Risk Allele C
P-val 6E-10
Odds Ratio 1.13 [1.08-1.17]
GWAS snp
PMID [PMID 17463248OA-icon.png]
Trait Type 2 diabetes
Title A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
Risk Allele C
P-val 6E-10
Odds Ratio 1.13 [1.09-1.17]
GWAS snp
PMID [PMID 19401414OA-icon.png]
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
Risk Allele C
P-val 7E-12
Odds Ratio 1.21 [1.15-1.28]
OMIM125853
DescDIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
Variant
Relatedalso
[PMID 20041287OA-icon.png] Polymorphisms of TCF7L2 and HHEX genes in Chinese women with polycystic ovary syndrome


[PMID 20490451] Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight

[PMID 20647405OA-icon.png] 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 22506066OA-icon.png] Genetic Variants of IDE-KIF11-HHEX at 10q23.33 Associated with Type 2 Diabetes Risk: A Fine-Mapping Study in Chinese Population


[PMID 22569928OA-icon.png] Analysis of common type 2 diabetes mellitus genetic risk factors in new-onset diabetes after transplantation in kidney transplant patients medicated with tacrolimus


[PMID 17786204OA-icon.png] Polymorphisms within novel risk loci for type 2 diabetes determine beta-cell function.


[PMID 17786212OA-icon.png] 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 18224312OA-icon.png] 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 18423522OA-icon.png] Estimating odds ratios in genome scans: an approximate conditional likelihood approach.


[PMID 18426861OA-icon.png] Association analysis of type 2 diabetes Loci in type 1 diabetes.


[PMID 18443202OA-icon.png] Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies.


[PMID 18461161OA-icon.png] Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.


[PMID 18469204OA-icon.png] 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 18533027OA-icon.png] Worldwide population differentiation at disease-associated SNPs.


[PMID 18556337OA-icon.png] 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 18591388OA-icon.png] Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.


[PMID 18633108OA-icon.png] 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 18689899OA-icon.png] Exchangeable models of complex inherited diseases.


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


[PMID 18782870OA-icon.png] Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008.


[PMID 18852197OA-icon.png] 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 19001172OA-icon.png] 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 19008344OA-icon.png] 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 19020323OA-icon.png] Genotype score in addition to common risk factors for prediction of type 2 diabetes.


[PMID 19033397OA-icon.png] Replication study of candidate genes associated with type 2 diabetes based on genome-wide screening.


[PMID 19056611OA-icon.png] Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.


[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 19161620OA-icon.png] An open access database of genome-wide association results.


[PMID 19228808OA-icon.png] Type 2 diabetes risk alleles are associated with reduced size at birth.


[PMID 19279076OA-icon.png] Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men.


[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 19455305OA-icon.png] No association of multiple type 2 diabetes loci with type 1 diabetes.


[PMID 19460916OA-icon.png] Genetic architecture of type 2 diabetes: recent progress and clinical implications.


[PMID 19502414OA-icon.png] 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 19615048OA-icon.png] 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 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 19956539OA-icon.png] How many genetic variants remain to be discovered?


[PMID 20017978OA-icon.png] Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.


[PMID 20018041OA-icon.png] The effect of multiple genetic variants in predicting the risk of type 2 diabetes.


[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 20049090OA-icon.png] Association between type 2 diabetes loci and measures of fatness.


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


[PMID 20080751OA-icon.png] Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.


[PMID 20126254OA-icon.png] Rare variants create synthetic genome-wide associations.


[PMID 20144318OA-icon.png] A strategy for analyzing gene-nutrient interactions in type 2 diabetes.


[PMID 20144327OA-icon.png] A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.


[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 20424228OA-icon.png] 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 20532014OA-icon.png] The epidemiology of diabetes in Korea: from the economics to genetics.


[PMID 20550665OA-icon.png] Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population.


[PMID 20712903OA-icon.png] 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 21278902OA-icon.png] Genetic risk profiling for prediction of type 2 diabetes.


[PMID 21283728OA-icon.png] Genetic variants of diabetes risk and incident cardiovascular events in chronic coronary artery disease.


[PMID 22237986OA-icon.png] 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


GET Evidence
rs1111875
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.34127
summary



[PMID 22438186] A SNP in G6PC2 predicts insulin secretion in type 1 diabetes

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 C
P-val 3E-19
Odds Ratio 1.15 [1.11-1.19]
GWAS snp
PMID [PMID 23945395]
Trait Type 2 diabetes
Title Genome-wide association study identifies three novel loci for type 2 diabetes.
Risk Allele C
P-val 2E-8
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.