rs13266634

Chromosome : 8 , Position: 117172544
Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.
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Reference AlleleC
Alternative Alleles:  A, T

Traits

Trait Variant Impact PMID Author (year)
Type 2 diabetes [EA] T
Nat Genet Zhao W (2017)
Fasting plasma glucose T
Genome Med Nagy R (2017)
Proinsulin levels T
Diabetes Strawbridge RJ (2011)
Fasting glucose T
Nat Genet Chen J (2021)
Fasting blood glucose T
Nat Genet Manning AK (2012)
Glycated hemoglobin levels T
PLoS Genet Pare G (2008)
Triglycerides T
Nat Genet Klarin D (2018)
Sex hormone-binding globulin levels adjusted for BMI T
Nat Med Ruth KS (2020)
Blood sugar levels T
Nat Genet Kanai M (2018)
Diabetes mellitus T
Unknown journal UKB SAIGE (2018)
Hemoglobin A1c levels T
Nat Genet Kanai M (2018)
Metformin | treatment/medication code T
Unknown journal UKB Neale v2 (2018)
Type 2 diabetes T
Unknown journal UKB SAIGE (2018)
Type 2 diabetes (adjusted for BMI) T
Nat Genet Mahajan A (2018)
Type 2 diabetes [DGI+FUSION+WTCCC] T
Science Zeggini E (2007)
Type 2 diabetes [Japanese] T
Nat Commun Imamura M (2016)

Summary

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).

[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. [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. [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)).

    [type-1 diabetes

    [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)


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

    [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 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 19741166] Common Genetic Determinants of Glucose Homeostasis in Healthy Children: The European Youth Heart Study (EYHS)



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


    [PMID 20802253] Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion

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





    [PMID 21036910] 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


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


    [PMID 22069278] Mapping of conformational autoantibody epitopes in ZNT8


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




    [PMID 17786212] 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 18224312] 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 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 18498634] The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.


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


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


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


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


    [PMID 18598350] 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 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 18654633] Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies.


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


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


    [PMID 19161620] 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 19207020] Meta-analysis in genome-wide association studies.


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


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


    [PMID 19602701] 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 19862325] PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.


    [PMID 19956108] 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 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 20138556] Meta-analysis and functional effects of the SLC30A8 rs13266634 polymorphism on isolated human pancreatic islets.


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


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


    [PMID 20712903] 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 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 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 21779873] 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.




    [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 22923468] 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 23334806] 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 23462794] Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets.


    [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].

More Information

The minor allele (T) is associated with:

  • Protection from post-exercise strength loss [R]

Population Alleles Frequency

ethhicity frequency
A T
African/African-American 0.0917
Latino/Admixed American 0.253
Ashkenazi Jewish 0.2535
East Asian 0.4503
European 0.3174
Other (population not assigned) 0.3011

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