Have questions? Visit https://www.reddit.com/r/SNPedia

Rs13266634

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 3 increased risk for type-2 diabetes
(C;T) 2.5 increased risk for type-2 diabetes
(T;T) 0 Normal risk for type-2 diabetes
ReferenceGRCh38 38.1/141
Chromosome8
Position117172544
GeneSLC30A8
is asnp
is mentioned by
dbSNPrs13266634
ebirs13266634
Exacrs13266634
PheGenIrs13266634
hapmaprs13266634
1000 genomesrs13266634
hgdprs13266634
ensemblrs13266634
gopubmedrs13266634
geneviewrs13266634
scholarrs13266634
googlers13266634
pharmgkbrs13266634
gwascentralrs13266634
openSNPrs13266634
23andMers13266634
23andMe allrs13266634
SNP Nexus

SNPshotrs13266634
SNPdbers13266634
MSV3drs13266634
GWAS Ctlgrs13266634
GMAF0.2824
Max Magnitude3
? (C;C) (C;T) (T;T) 28
rs13266634 is a SNP in the zinc transporter protein member 8 SLC30A8 gene that has primarily been associated with type-2 diabetes in several studies. This SNP is also known as the Arg325Trp or R325W variant; the (C) allele encodes the arginine (R), and the (T) allele encodes the tryptophan (W).

[PMID 18162508] significantly associated p = 0.0073; in 1,630 Japanese subjects with type-2 diabetes and in 1,064 controls

The major alleles of the SLC30A8 SNP rs13266634 and the HHEX SNP rs7923837 associate with reduced insulin secretion, but not with insulin resistance. [PMID 17786204OA-icon.png]

[PMID 18324385] 46% of European non-diabetic offspring of type-2 diabetes patients are rs13266634(C;C) homozygotes; they are diabetes-prone and characterised by a 19% decrease in first-phase insulin release following an intravenous glucose load.

  • Note: this SNP, rs13266634, is not represented on the Affymetrix 5.0 chip. Since it is also in an area of high recombination, it also lacks a proxy on the Affy chip and thus could not have been detected in the large genome-wide type-2 diabetes study performed by the Wellcome Trust Consortium. [PMID 17554300OA-icon.png]

[PMID 18437351] 1,638 type-2 diabetes patients and 1,858 controls

  • rs13266634 in SLC30A8 (OR 1.20, 95% CI: 1.09-1.33, p = 3.9 x 10(-4)).

[PMID 18548167OA-icon.png] rs13266634(C) allele is associated with younger age of onset of type-1 diabetes

[PMID 19033397OA-icon.png] This SNP was confirmed to be associated with type-2 diabetes in a study of 500+ Japanese patients plus pooled meta-analysis with 6 previous association studies (also of Japanese).

spitotoon associated with blood sugar levels (glycated hemoglobin levels) rs13266634(C)

Neighborrs3802177
Distance242
GWAS
SNP rs13266634
PubMedID [PMID 17293876]
Condition Type 2 diabetes
Gene SLC30A8
Risk Allele C
pValue 6.00E-008
OR 1.18
95% CI 0.69-1.67


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

[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.

GWAS snp
PMID [PMID 19056611OA-icon.png]
Trait Type 2 diabetes
Title Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data
Risk Allele
P-val 0.000007
Odds Ratio 1.18 [1.10-1.27]
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 4.9999999999999998E-8
Odds Ratio 1.12 [1.07-1.16]
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 4.9999999999999998E-8
Odds Ratio 1.12 [1.07-1.16]
GWAS snp
PMID [PMID 17460697]
Trait Type 2 diabetes
Title A variant in CDKAL1 influences insulin response and risk of type 2 diabetes
Risk Allele C
P-val 0.0000030000000000000001
Odds Ratio 1.15 [1.08-1.22]
GWAS snp
PMID [PMID 17463249OA-icon.png]
Trait Type 2 diabetes
Title Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
Risk Allele C
P-val 5E-8
Odds Ratio 1.12 [1.07-1.16]
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 2E-14
Odds Ratio 1.22 [1.16-1.28]
OMIM611145
DescSOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 8; SLC30A8
Variant
Relatedalso

[PMID 19590848] Autoantibodies to zinc transporter 8 and SLC30A8 genotype stratify type 1 diabetes risk

[PMID 19655390] Zn(2+)-transporter-8: A dual role in diabetes

[PMID 19741166OA-icon.png] Common Genetic Determinants of Glucose Homeostasis in Healthy Children: The European Youth Heart Study (EYHS)

GWAS snp
PMID [PMID 19734900]
Trait Type 2 diabetes and other traits
Title Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia
Risk Allele C
P-val 8E-8
Odds Ratio 1.16 [1.10-1.22]



[PMID 20167458] SLC30A8 polymorphism and type 2 diabetes risk: Evidence from 27 study groups


[PMID 20802253OA-icon.png] Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion

[PMID 20839289OA-icon.png] Impact of repeated measures and sample selection on genome-wide association studies of fasting glucose





[PMID 21036910OA-icon.png] Association of a fasting glucose genetic risk score with subclinical atherosclerosis: The Atherosclerosis Risk in Communities (ARIC) Study

[PMID 21131091] Association between rs13266634 C/T polymorphisms of solute carrier family 30 member 8 (SLC30A8) and type 2 diabetes, impaired glucose tolerance, type 1 diabetes-A meta-analysis

OMIM611145
Desc
Variant0001
Relatedalso


[PMID 21510814] Association of Genetic Variations in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 with Type 2 Diabetes Mellitus in Tunisia


[PMID 22069278OA-icon.png] Mapping of conformational autoantibody epitopes in ZNT8


[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 22584884] The Effect of Type 2 Diabetes Risk Loci on Insulin Requirements in Type 1 Diabetes


ClinVar
Risk rs13266634(T;T)
Alt rs13266634(T;T)
Reference rs13266634(C;C)
Significance Other
Disease DIABETES MELLITUS
Variation info
Gene SLC30A8
CLNDBN DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO
Reversed 0
HGVS NC_000008.10:g.118184783C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001055.3,



[PMID 17786212OA-icon.png] Heterogeneity in meta-analyses of genome-wide association investigations.


[PMID 17928989] Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population.


[PMID 17971426] Polymorphisms in the IDE-KIF11-HHEX gene locus are reproducibly associated with type 2 diabetes in a Japanese population.


[PMID 18162509] A polymorphism in the zinc transporter gene SLC30A8 confers resistance against posttransplantation diabetes mellitus in renal allograft recipients.


[PMID 18210030] Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study.


[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.


[PMID 18400535] A non-synonymous variant in SLC30A8 is not associated with type 1 diabetes in the Danish population.


[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 18498634OA-icon.png] The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.


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


[PMID 18544707OA-icon.png] Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program.


[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 18591387OA-icon.png] A common nonsynonymous single nucleotide polymorphism in the SLC30A8 gene determines ZnT8 autoantibody specificity in type 1 diabetes.


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


[PMID 18598350OA-icon.png] Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk.


[PMID 18628523] Zinc transporter-8 gene (SLC30A8) is associated with type 2 diabetes in Chinese.


[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 18654633OA-icon.png] Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies.


[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 18850084] Association between anti-ZnT8 autoantibody specificities and SLC30A8 Arg325Trp variant in Japanese patients with type 1 diabetes.


[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 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 19108828] Genetic variations of solute carrier family 30 (zinc transporter) member 8 (SLC30A8) are not associated with polycystic ovary syndrome.


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


[PMID 19172244] The risk allele load accelerates the age-dependent decline in beta cell function.


[PMID 19207020OA-icon.png] Meta-analysis in genome-wide association studies.


[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 19526209OA-icon.png] Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?


[PMID 19542200OA-icon.png] Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes-associated variants.


[PMID 19602701OA-icon.png] Underlying genetic models of inheritance in established type 2 diabetes associations.


[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 19956108OA-icon.png] Analysis of 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1.


[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 20138556] Meta-analysis and functional effects of the SLC30A8 rs13266634 polymorphism on isolated human pancreatic islets.


[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 20351753] A low-risk ZnT-8 allele (W325) for post-transplantation diabetes mellitus is protective against cyclosporin A-induced impairment of insulin secretion.


[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 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 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 20554072] Gestational diabetes mellitus screening based on the gene chip technique.


[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 20809084] Association analysis of SLC30A8 rs13266634 and rs16889462 polymorphisms with type 2 diabetes mellitus and repaglinide response in Chinese patients.


[PMID 20836749] Correlations between islet autoantibody specificity and the SLC30A8 genotype with HLA-DQB1 and metabolic control in new onset type 1 diabetes.


[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 21437630] Association of type 2 diabetes susceptibility genes (TCF7L2, SLC30A8, PCSK1 and PCSK2) and proinsulin conversion in a Chinese population.


[PMID 21604969] Relationship between ZnT8Ab, the SLC30A8 gene and disease progression in children with newly diagnosed type 1 diabetes.


[PMID 21779873OA-icon.png] Association of the SLC30A8 missense polymorphism R325W with proinsulin levels at baseline and after lifestyle, metformin or troglitazone intervention in the Diabetes Prevention Program.


[PMID 22377714] Impact of common type 2 diabetes risk gene variants on future type 2 diabetes in the non-diabetic population in Korea.


[PMID 22686132] Association between autoantibodies to the Arginine variant of the Zinc transporter 8 (ZnT8) and stimulated C-peptide levels in Danish children and adolescents with newly diagnosed type 1 diabetes.


GET Evidence
SLC30A8-R325W
aa_change Arg325Trp
aa_change_short R325W
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.227366
summary



[PMID 23194113] Zinc transporter type 8 autoantibodies (ZnT8A): prevalence and phenotypic associations in latent autoimmune diabetes in adults and type 1 diabetes diagnosed >35 years


[PMID 22749234] Contribution of common variants of ENPP1, IGF2BP2, KCNJ11, MLXIPL, PPARγ, SLC30A8 and TCF7L2 to the risk of type 2 diabetes in Lebanese and Tunisian Arabs


[PMID 24449369] SLC30A8 gene polymorphism (rs13266634 C/T) and type 2 diabetes mellitus in south Iranian population


[PMID 24499956] SLC30A8 rs13266634 polymorphism is related to a favorable cardiometabolic lipid profile in HIV/hepatitis C virus-coinfected patients


[PMID 22447136] ZnT8 and type 1 diabetes.


[PMID 22778022] No association between the type 2 diabetes mellitus susceptibility gene, SLC30A8 and schizophrenia in a Chinese population.


[PMID 22923468OA-icon.png] Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population.


[PMID 23061550] Prevalence of ZnT8 antibody in relation to phenotype and SLC30A8 polymorphism in adult autoimmune diabetes: results from the HUNT study, Norway.


[PMID 23126564] Antigenicity and epitope specificity of ZnT8 autoantibodies in type 1 diabetes.


[PMID 23298195] Association study of genetic variants of 17 diabetes-related genes/loci and cardiovascular risk and diabetic nephropathy in the Chinese She population.


[PMID 23334806OA-icon.png] Systematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitus.


[PMID 23458876] ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.


[PMID 23462794OA-icon.png] Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets.

GWAS snp
PMID [PMID 24647736OA-icon.png]
Trait Glycated hemoglobin levels
Title Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
Risk Allele A
P-val 2E-7
Odds Ratio .05 [NR] unit decrease
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 5E-7
Odds Ratio 1.12 [1.07-1.17]


[PMID 26109524] Role of high-risk variants in the development of impaired glucose metabolism was modified by birth weight in Han Chinese


[PMID 26837367] [Association between type 2 diabetes in Uygur and polymorphisms of SLC30A8 and its interaction with smoking].