ZnT 8


Gene Symbol: ZnT 8
Description: solute carrier family 30 member 8
Alias: ZNT8, ZnT-8, zinc transporter 8, solute carrier family 30 (zinc transporter), member 8, zinc transporter ZnT-8
Species: human
Products:     ZnT 8

Top Publications

  1. Cauchi S, Meyre D, Durand E, Proenca C, Marre M, Hadjadj S, et al. Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value. PLoS ONE. 2008;3:e2031 pubmed publisher
    ..Genes expressed in the pancreas interact together and their combined effect dramatically increases the risk for T2D, opening avenues for the development of genetic prediction tests. ..
  2. Scott L, Mohlke K, Bonnycastle L, Willer C, Li Y, Duren W, et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science. 2007;316:1341-5 pubmed
    ..This brings the number of T2D loci now confidently identified to at least 10. ..
  3. Rung J, Cauchi S, Albrechtsen A, Shen L, Rocheleau G, Cavalcanti Proença C, et al. Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. Nat Genet. 2009;41:1110-5 pubmed publisher
  4. Ng M, Park K, Oh B, Tam C, Cho Y, Shin H, et al. Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians. Diabetes. 2008;57:2226-33 pubmed publisher
    ..Our findings support the important but differential contribution of these genetic variants to type 2 diabetes and obesity in Asians compared with Europeans. ..
  5. Omori S, Tanaka Y, Takahashi A, Hirose H, Kashiwagi A, Kaku K, et al. Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population. Diabetes. 2008;57:791-5 pubmed
    ..We have identified 6 of the 11 loci that were identified by genome-wide association studies in white populations, and these loci are considered strong candidates for type 2 diabetes susceptibility across different ethnicities. ..
  6. Kirchhoff K, Machicao F, Haupt A, Schafer S, Tschritter O, Staiger H, et al. Polymorphisms in the TCF7L2, CDKAL1 and SLC30A8 genes are associated with impaired proinsulin conversion. Diabetologia. 2008;51:597-601 pubmed publisher
    ..However, both aspects of beta cell function are not necessarily linked, as impaired insulin secretion is specifically present in variants of HHEX and impaired proinsulin conversion is specifically present in a variant of SLC30A8. ..
  7. Meigs J, Shrader P, Sullivan L, McAteer J, Fox C, Dupuis J, et al. Genotype score in addition to common risk factors for prediction of type 2 diabetes. N Engl J Med. 2008;359:2208-19 pubmed publisher
    ..A genotype score based on 18 risk alleles predicted new cases of diabetes in the community but provided only a slightly better prediction of risk than knowledge of common risk factors alone. ..
  8. Chimienti F, Favier A, Seve M. ZnT-8, a pancreatic beta-cell-specific zinc transporter. Biometals. 2005;18:313-7 pubmed
    ..We discovered mammalian orthologs (rat, mouse, chimpanzee, and dog) and found these ZnT-8 proteins very similar (98% conserved amino acids) to human ZnT-8, indicating a high conservation during evolution. ..
  9. Haupt A, Staiger H, Schafer S, Kirchhoff K, Guthoff M, Machicao F, et al. The risk allele load accelerates the age-dependent decline in beta cell function. Diabetologia. 2009;52:457-62 pubmed publisher
    ..0003 vs p = 0.2). The risk allele load significantly accelerates the age-dependent decline in beta cell function, and this might be of particular importance in obese people. ..

More Information


  1. Groenewoud M, Dekker J, Fritsche A, Reiling E, Nijpels G, Heine R, et al. Variants of CDKAL1 and IGF2BP2 affect first-phase insulin secretion during hyperglycaemic clamps. Diabetologia. 2008;51:1659-63 pubmed publisher
    ..Our results, based on hyperglycaemic clamps, provide further insight into the pathogenic mechanism behind the association of these gene variants with type 2 diabetes. ..
  2. Seve M, Chimienti F, Devergnas S, Favier A. In silico identification and expression of SLC30 family genes: an expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression. BMC Genomics. 2004;5:32 pubmed
    ..The method presented herein provides a useful tool to complete gene families from sequencing programs and to produce preliminary expression data to select the proper biological samples for laboratory experimentation. ..
  3. Lampasona V, Petrone A, Tiberti C, Capizzi M, Spoletini M, Di Pietro S, et al. Zinc transporter 8 antibodies complement GAD and IA-2 antibodies in the identification and characterization of adult-onset autoimmune diabetes: Non Insulin Requiring Autoimmune Diabetes (NIRAD) 4. Diabetes Care. 2010;33:104-8 pubmed publisher
    b>Zinc transporter 8 (ZnT8) is an islet beta-cell secretory granule membrane protein recently identified as an autoantibody antigen in type 1 diabetes...
  4. Rong R, Hanson R, Ortiz D, Wiedrich C, Kobes S, Knowler W, et al. 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. Diabetes. 2009;58:478-88 pubmed publisher
  5. van Hoek M, Dehghan A, Witteman J, van Duijn C, Uitterlinden A, Oostra B, et al. Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study. Diabetes. 2008;57:3122-8 pubmed publisher
    ..Combining genetic variants has low predictive value for future type 2 diabetes at a population-based level. The genetic polymorphisms only marginally improved the prediction of type 2 diabetes beyond clinical characteristics. ..
  6. Kawasaki E, Uga M, Nakamura K, Kuriya G, Satoh T, Fujishima K, et al. Association between anti-ZnT8 autoantibody specificities and SLC30A8 Arg325Trp variant in Japanese patients with type 1 diabetes. Diabetologia. 2008;51:2299-302 pubmed publisher
    We analysed the association between humoral autoreactivity to zinc transporter-8 (ZnT8) and the SLC30A8 rs13266634 polymorphism (Arg325Trp), which is located at the most distal loop in the ZnT8 protein...
  7. Lango H, Palmer C, Morris A, Zeggini E, Hattersley A, McCarthy M, et al. Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Diabetes. 2008;57:3129-35 pubmed publisher
    ..Further studies are needed to assess whether individuals with extreme numbers of risk alleles may benefit from genetic testing. ..
  8. Chimienti F, Devergnas S, Pattou F, Schuit F, Garcia Cuenca R, Vandewalle B, et al. In vivo expression and functional characterization of the zinc transporter ZnT8 in glucose-induced insulin secretion. J Cell Sci. 2006;119:4199-206 pubmed
    ..e. >10 mM glucose. Altogether, these data strongly suggest that the zinc transporter ZnT-8 is a key protein for both zinc accumulation and regulation of insulin secretion in pancreatic beta cells. ..
  9. Scotto M, Afonso G, Larger E, Raverdy C, Lemonnier F, Carel J, et al. Zinc transporter (ZnT)8(186-194) is an immunodominant CD8+ T cell epitope in HLA-A2+ type 1 diabetic patients. Diabetologia. 2012;55:2026-31 pubmed publisher
    Anti-zinc transporter (ZnT)8 autoantibodies are commonly detected in type 1 diabetic patients. We hypothesised that ZnT8 is also recognised by CD8(+) T cells and aimed to identify HLA-A2 (A*02:01)-restricted epitope targets...
  10. Timpson N, Lindgren C, Weedon M, Randall J, Ouwehand W, Strachan D, et al. Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data. Diabetes. 2009;58:505-10 pubmed publisher
    ..These data reinforce the notion that there is substantial etiological heterogeneity within type 2 diabetes. ..
  11. Enée E, Kratzer R, Arnoux J, Barilleau E, Hamel Y, Marchi C, et al. ZnT8 is a major CD8+ T cell-recognized autoantigen in pediatric type 1 diabetes. Diabetes. 2012;61:1779-84 pubmed publisher
    ..1) to develop a CD8(+) T-cell interferon-? ELISpot assay for pediatric patients and 2) to determine whether zinc transporter 8 (ZnT8), a recently described target of autoantibodies in a majority of patients, is also recognized by ..
  12. Masala S, Zedda M, Cossu D, Ripoli C, Palermo M, Sechi L. Zinc transporter 8 and MAP3865c homologous epitopes are recognized at T1D onset in Sardinian children. PLoS ONE. 2013;8:e63371 pubmed publisher
    ..Therefore, we investigated the seroreactivity against epitopes derived from the ZnT8 autoantigen involved in children at T1D onset and their homologous sequences of the MAP3865c protein...
  13. Staiger H, Machicao F, Stefan N, Tschritter O, Thamer C, Kantartzis K, et al. Polymorphisms within novel risk loci for type 2 diabetes determine beta-cell function. PLoS ONE. 2007;2:e832 pubmed
  14. Ruchat S, Elks C, Loos R, Vohl M, Weisnagel S, Rankinen T, et al. Association between insulin secretion, insulin sensitivity and type 2 diabetes susceptibility variants identified in genome-wide association studies. Acta Diabetol. 2009;46:217-26 pubmed publisher
    ..These variants were found to account for 2.0-8.5% of the variance of T2DM-related traits. ..
  15. Andersson C, Larsson K, Vaziri Sani F, Lynch K, Carlsson A, Cedervall E, et al. The three ZNT8 autoantibody variants together improve the diagnostic sensitivity of childhood and adolescent type 1 diabetes. Autoimmunity. 2011;44:394-405 pubmed publisher
    ..of 686 patients diagnosed in 1996-2005 in Skåne were analyzed for all the seven autoantibodies [arginin 325 zinc transporter 8 autoantibody (ZnT8RA), tryptophan 325 zinc transporter 8 autoantibody (ZnT8WA), glutamine 325 Zinc ..
  16. Horikawa Y, Miyake K, Yasuda K, Enya M, Hirota Y, Yamagata K, et al. Replication of genome-wide association studies of type 2 diabetes susceptibility in Japan. J Clin Endocrinol Metab. 2008;93:3136-41 pubmed publisher
    ..Some of these variants represent common type 2 diabetes-susceptibility genes in both Japanese and Europeans. ..
  17. Stancakova A, Kuulasmaa T, Paananen J, Jackson A, Bonnycastle L, Collins F, et al. 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. Diabetes. 2009;58:2129-36 pubmed publisher
    ..Effects of SLC30A8, HHEX, CDKAL1, and TCF7L2 on insulin release could be partially explained by impaired proinsulin conversion. HHEX might influence both insulin release and insulin sensitivity. ..
  18. Saxena R, Voight B, Lyssenko V, Burtt N, de Bakker P, Chen H, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007;316:1331-6 pubmed
    ..The discovery of associated variants in unsuspected genes and outside coding regions illustrates the ability of genome-wide association studies to provide potentially important clues to the pathogenesis of common diseases. ..
  19. Palmer N, Goodarzi M, Langefeld C, Ziegler J, Norris J, Haffner S, et al. Quantitative trait analysis of type 2 diabetes susceptibility loci identified from whole genome association studies in the Insulin Resistance Atherosclerosis Family Study. Diabetes. 2008;57:1093-100 pubmed publisher
    ..We observe evidence that diabetes risk for CDKAL1, SLC30A8, IGF2BP2, and LOC387761 is specifically mediated through defects in insulin secretion. The mechanisms of other predisposing genes remain to be elucidated. ..
  20. Qu H, Grant S, Bradfield J, Kim C, Frackelton E, Hakonarson H, et al. Association analysis of type 2 diabetes Loci in type 1 diabetes. Diabetes. 2008;57:1983-6 pubmed publisher
    ..The distinct molecular mechanisms of the two diseases highlighted the importance of differentiation diagnosis and different treatment principles. ..
  21. Ingelsson E, Langenberg C, Hivert M, Prokopenko I, Lyssenko V, Dupuis J, et al. Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans. Diabetes. 2010;59:1266-75 pubmed publisher
    ..Our findings emphasize the importance of detailed physiological characterization of such loci for improved understanding of pathways associated with alterations in glucose homeostasis and eventually type 2 diabetes. ..
  22. Gohlke H, Ferrari U, Koczwara K, Bonifacio E, Illig T, Ziegler A. SLC30A8 (ZnT8) Polymorphism is Associated with Young Age at Type 1 Diabetes Onset. Rev Diabet Stud. 2008;5:25-7 pubmed publisher
    It was recently shown that the major allele of the SLC30A8 (zinc transporter 8, ZnT8) single nucleotide polymorphism (SNP) rs13266634 was associated with type 2 diabetes and with reduced insulin secretion in non-diabetic relatives...
  23. Chimienti F, Devergnas S, Favier A, Seve M. Identification and cloning of a beta-cell-specific zinc transporter, ZnT-8, localized into insulin secretory granules. Diabetes. 2004;53:2330-7 pubmed
  24. Lyssenko V, Jonsson A, Almgren P, Pulizzi N, Isomaa B, Tuomi T, et al. Clinical risk factors, DNA variants, and the development of type 2 diabetes. N Engl J Med. 2008;359:2220-32 pubmed publisher
    ..The value of genetic factors increased with an increasing duration of follow-up. ..
  25. Chujo D, Foucat E, Nguyen T, Chaussabel D, Banchereau J, Ueno H. ZnT8-Specific CD4+ T cells display distinct cytokine expression profiles between type 1 diabetes patients and healthy adults. PLoS ONE. 2013;8:e55595 pubmed publisher
    ..Out of ten donors, the Direct assay identified GAD65-specific CD4(+) T cells in three adults and zinc transporter 8 (ZnT8)-specific CD4(+) T cells in five adults...
  26. Howson J, Krause S, Stevens H, Smyth D, Wenzlau J, Bonifacio E, et al. Genetic association of zinc transporter 8 (ZnT8) autoantibodies in type 1 diabetes cases. Diabetologia. 2012;55:1978-84 pubmed publisher
    Autoantibodies to zinc transporter 8 (ZnT8A) are associated with risk of type 1 diabetes. Apart from the SLC30A8 gene itself, little is known about the genetic basis of ZnT8A...
  27. Wenzlau J, Frisch L, Gardner T, Sarkar S, Hutton J, Davidson H. Novel antigens in type 1 diabetes: the importance of ZnT8. Curr Diab Rep. 2009;9:105-12 pubmed
    ..b>ZnT8 was recently defined as a candidate autoantigen based on a -bioinformatics analysis focused on discovery of beta-..
  28. Cauchi S, Del Guerra S, Choquet H, D Aleo V, Groves C, Lupi R, et al. Meta-analysis and functional effects of the SLC30A8 rs13266634 polymorphism on isolated human pancreatic islets. Mol Genet Metab. 2010;100:77-82 pubmed publisher
    The C-allele of rs13266634 located in SLC30A8 (ZNT8) has been strongly associated with decreased insulin release and with type 2 diabetes (T2D) susceptibility in some but not all studies...
  29. Pascoe L, Tura A, Patel S, Ibrahim I, Ferrannini E, Zeggini E, et al. Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function. Diabetes. 2007;56:3101-4 pubmed
    ..We confirmed the association between the FTO allele and increased adiposity, but none of the other novel susceptibility alleles were associated with whole-body insulin sensitivity. ..
  30. Sanghera D, Ortega L, Han S, Singh J, Ralhan S, Wander G, et al. Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk. BMC Med Genet. 2008;9:59 pubmed publisher
    ..Further investigations are warranted to understand the pathway-based functional implications of these important loci in T2D pathophysiology in different ethnicities. ..
  31. Wenzlau J, Liu Y, Yu L, Moua O, Fowler K, Rangasamy S, et al. A common nonsynonymous single nucleotide polymorphism in the SLC30A8 gene determines ZnT8 autoantibody specificity in type 1 diabetes. Diabetes. 2008;57:2693-7 pubmed publisher
    ..2 diabetes nonsynonymous single nucleotide polymorphism (SNP) affecting aa(325) lies within the region of highest ZnT8 autoantibody (ZnT8A) binding, prompting an investigation of its relationship to type 1 diabetes...
  32. Cauchi S, Nead K, Choquet H, Horber F, Potoczna N, Balkau B, et al. The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies. BMC Med Genet. 2008;9:45 pubmed publisher
  33. Delli A, Vaziri Sani F, Lindblad B, Elding Larsson H, Carlsson A, Forsander G, et al. Zinc transporter 8 autoantibodies and their association with SLC30A8 and HLA-DQ genes differ between immigrant and Swedish patients with newly diagnosed type 1 diabetes in the Better Diabetes Diagnosis study. Diabetes. 2012;61:2556-64 pubmed
    We examined whether zinc transporter 8 autoantibodies (ZnT8A; arginine ZnT8-RA, tryptophan ZnT8-WA, and glutamine ZnT8-QA variants) differed between immigrant and Swedish patients due to different polymorphisms of SLC30A8, HLA-DQ, or both...
  34. Hertel J, Johansson S, Raeder H, Midthjell K, Lyssenko V, Groop L, et al. Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study). Diabetologia. 2008;51:971-7 pubmed publisher
    ..4 x 10(-4)). Our data show that SNPs near IGFBP2, CDKAL1, SLC30A8, CDKN2B, HHEX and FTO are also associated with diabetes in non-selected patients with type 2 diabetes. ..
  35. Lewis J, Palmer N, Hicks P, Sale M, Langefeld C, Freedman B, et al. Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies. Diabetes. 2008;57:2220-5 pubmed publisher
    ..High frequency of risk alleles in several of these genes may, however, contribute to the increased prevalence of type 2 diabetes in African Americans. ..
  36. Steinthorsdottir V, Thorleifsson G, Reynisdottir I, Benediktsson R, Jonsdottir T, Walters G, et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet. 2007;39:770-5 pubmed
    ..The insulin response for homozygotes was approximately 20% lower than for heterozygotes or noncarriers, suggesting that this variant confers risk of T2D through reduced insulin secretion. ..
  37. Hu C, Zhang R, Wang C, Wang J, Ma X, Lu J, et al. PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population. PLoS ONE. 2009;4:e7643 pubmed publisher
    ..0006). The current study confirmed the association between PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 and type 2 diabetes. These type 2 diabetes risk loci contributed to the disease additively. ..
  38. Wenzlau J, Moua O, Sarkar S, Yu L, Rewers M, Eisenbarth G, et al. SlC30A8 is a major target of humoral autoimmunity in type 1 diabetes and a predictive marker in prediabetes. Ann N Y Acad Sci. 2008;1150:256-9 pubmed publisher
    ..The highest ranking candidate was Slc30A8 (zinc transporter 8; ZnT8), which was screened by radioimmunoprecipitation assays against new-onset T1D and prediabetic sera...
  39. Haupt A, Guthoff M, Schäfer S, Kirchhoff K, Machicao F, Gallwitz B, et al. The inhibitory effect of recent type 2 diabetes risk loci on insulin secretion is modulated by insulin sensitivity. J Clin Endocrinol Metab. 2009;94:1775-80 pubmed publisher
    ..Effective compensatory mechanisms may exist in subjects with high insulin sensitivity that limit the impact of these genes. ..
  40. Xiang J, Li X, Xu M, Hong J, Huang Y, Tan J, et al. Zinc transporter-8 gene (SLC30A8) is associated with type 2 diabetes in Chinese. J Clin Endocrinol Metab. 2008;93:4107-12 pubmed publisher
    ..012 and 0.004, respectively). Our results provide evidence that SLC30A8 is a susceptible locus for type 2 diabetes in Chinese population, and its variant can influence insulin secretion. ..
  41. Boesgaard T, Zilinskaite J, Vänttinen M, Laakso M, Jansson P, Hammarstedt A, et al. The common SLC30A8 Arg325Trp variant is associated with reduced first-phase insulin release in 846 non-diabetic offspring of type 2 diabetes patients--the EUGENE2 study. Diabetologia. 2008;51:816-20 pubmed publisher
    ..These diabetes-prone offspring are characterised by a 19% decrease in first-phase insulin release following an intravenous glucose load, suggesting a role for this variant in the pathogenesis of pancreatic beta cell dysfunction. ..
  42. Horikoshi M, Hara K, Ito C, Shojima N, Nagai R, Ueki K, et al. Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population. Diabetologia. 2007;50:2461-6 pubmed
    ..023, p = 0.0083, respectively). HHEX is a common type 2 diabetes-susceptibility gene across different ethnic groups. ..
  43. Wenzlau J, Juhl K, Yu L, Moua O, Sarkar S, Gottlieb P, et al. The cation efflux transporter ZnT8 (Slc30A8) is a major autoantigen in human type 1 diabetes. Proc Natl Acad Sci U S A. 2007;104:17040-5 pubmed
    ..A high-ranking candidate, the zinc transporter ZnT8 (Slc30A8), was targeted by autoantibodies in 60-80% of new-onset T1D compared with <2% of controls and <3% ..
  44. Achenbach P, Lampasona V, Landherr U, Koczwara K, Krause S, Grallert H, et al. Autoantibodies to zinc transporter 8 and SLC30A8 genotype stratify type 1 diabetes risk. Diabetologia. 2009;52:1881-8 pubmed publisher
    Our aim was to determine the relationships between autoantibodies to zinc transporter 8 (ZnT8), genotypes of the ZnT8-encoding gene SLC30A8 and type 1 diabetes risk...
  45. Wu Y, Li H, Loos R, Yu Z, Ye X, Chen L, et al. 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. Diabetes. 2008;57:2834-42 pubmed publisher
    ..33). Our results indicate that in Chinese Hans, common variants in CDKAL1, CDKN2A/B, IGF2BP2, and SLC30A8 loci independently or additively contribute to type 2 diabetes risk, likely mediated through beta-cell dysfunction. ..
  46. Tabara Y, Osawa H, Kawamoto R, Onuma H, Shimizu I, Miki T, et al. Replication study of candidate genes associated with type 2 diabetes based on genome-wide screening. Diabetes. 2009;58:493-8 pubmed publisher
    ..Type 2 diabetes susceptibility of seven candidate genes was confirmed in Japanese. Conservation of susceptible loci for type 2 diabetes was independent of ethnic background. ..
  47. Brorsson C, Vaziri Sani F, Bergholdt R, Eising S, Nilsson A, Svensson J, et al. Correlations between islet autoantibody specificity and the SLC30A8 genotype with HLA-DQB1 and metabolic control in new onset type 1 diabetes. Autoimmunity. 2011;44:107-14 pubmed publisher
    We hypothesised that the correlation between autoantibody specificity for the ZnT8 Arg325Trp isoforms and the type 2 diabetes-associated rs13266634 may affect ?-cell function at type 1 diabetes (T1D) onset...
  48. Nielsen L, Vaziri Sani F, Pörksen S, Andersen M, Svensson J, Bergholdt R, et al. Relationship between ZnT8Ab, the SLC30A8 gene and disease progression in children with newly diagnosed type 1 diabetes. Autoimmunity. 2011;44:616-23 pubmed publisher
    Autoantibodies against the newly established autoantigen in type 1 diabetes, zinc transporter 8, ZnT8, are presented as two types, ZnT8RAb and ZnT8WAb...
  49. Sladek R, Rocheleau G, Rung J, Dina C, Shen L, Serre D, et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature. 2007;445:881-5 pubmed
    ..These associations explain a substantial portion of disease risk and constitute proof of principle for the genome-wide approach to the elucidation of complex genetic traits. ..
  50. Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson A, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet. 2010;42:105-16 pubmed publisher
  51. Zeggini E, Weedon M, Lindgren C, Frayling T, Elliott K, Lango H, et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science. 2007;316:1336-41 pubmed
    ..The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes. ..
  52. Pulizzi N, Lyssenko V, Jonsson A, Osmond C, Laakso M, Kajantie E, et al. Interaction between prenatal growth and high-risk genotypes in the development of type 2 diabetes. Diabetologia. 2009;52:825-9 pubmed publisher
    ..Low birthweight might affect the strength of the association of some common variants (HHEX, CDKN2A/2B and JAZF1) with type 2 diabetes. These findings need to be replicated in independent cohorts. ..
  53. Moore A, Jablonski K, McAteer J, Saxena R, Pollin T, Franks P, et al. Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program. Diabetes. 2008;57:2503-10 pubmed publisher
  54. Cauchi S, Proenca C, Choquet H, Gaget S, De Graeve F, Marre M, et al. Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study. J Mol Med (Berl). 2008;86:341-8 pubmed publisher
    ..E.S.I.R. prospective cohort. However, in contrast to TCF7L2, the contribution of novel loci to T2D incidence seems only modest in the general middle-aged French population and should be replicated in larger cohorts. ..
  55. Cornelis M, Qi L, Zhang C, Kraft P, Manson J, Cai T, et al. Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry. Ann Intern Med. 2009;150:541-50 pubmed
    ..National Institutes of Health. ..
  56. Nicolson T, Bellomo E, Wijesekara N, Loder M, Baldwin J, Gyulkhandanyan A, et al. Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes-associated variants. Diabetes. 2009;58:2070-83 pubmed publisher
    ..single nucleotide polymorphism rs13266634 in the SLC30A8 gene, encoding the secretory granule zinc transporter ZnT8, is associated with type 2 diabetes...
  57. Zhao J, Li M, Bradfield J, Wang K, Zhang H, Sleiman P, et al. Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene. Diabetes. 2009;58:2414-8 pubmed publisher
    ..Our data show that the same genetic locus that has been identified as a marker for type 2 diabetes in previous studies also influences birth weight. ..
  58. Freathy R, Bennett A, Ring S, Shields B, Groves C, Timpson N, et al. Type 2 diabetes risk alleles are associated with reduced size at birth. Diabetes. 2009;58:1428-33 pubmed publisher
    ..Our results are in keeping with the fetal insulin hypothesis and provide robust evidence that common disease-associated variants can alter size at birth directly through the fetal genotype. ..
  59. De Grijse J, Asanghanwa M, Nouthe B, Albrecher N, Goubert P, Vermeulen I, et al. Predictive power of screening for antibodies against insulinoma-associated protein 2 beta (IA-2beta) and zinc transporter-8 to select first-degree relatives of type 1 diabetic patients with risk of rapid progression to clinical onset of the disease: . Diabetologia. 2010;53:517-24 pubmed publisher
    ..for insulinoma-associated protein (IA-2) beta (IA-2beta) autoantibodies (IA-2betaA) and zinc transporter-8 (ZnT8) autoantibodies (ZnT8A) improves identification of first-degree relatives of type 1 diabetic patients with a high 5-..
  60. Furukawa Y, Shimada T, Furuta H, Matsuno S, Kusuyama A, Doi A, et al. Polymorphisms in the IDE-KIF11-HHEX gene locus are reproducibly associated with type 2 diabetes in a Japanese population. J Clin Endocrinol Metab. 2008;93:310-4 pubmed
    ..A significant association with type 2 diabetes was not observed for rs13266634. Polymorphisms in the IDE-KIF11-HHEX gene locus are associated with susceptibility to type 2 diabetes across the boundary of race. ..
  61. Pascoe L, Frayling T, Weedon M, Mari A, Tura A, Ferrannini E, et al. Beta cell glucose sensitivity is decreased by 39% in non-diabetic individuals carrying multiple diabetes-risk alleles compared with those with no risk alleles. Diabetologia. 2008;51:1989-92 pubmed publisher
    ..001 and p = 0.003, respectively). This study shows how individual type 2 diabetes-risk alleles combine in an additive manner to impact upon pancreatic beta cell function in non-diabetic individuals. ..
  62. Wenzlau J, Walter M, Gardner T, Frisch L, Yu L, Eisenbarth G, et al. Kinetics of the post-onset decline in zinc transporter 8 autoantibodies in type 1 diabetic human subjects. J Clin Endocrinol Metab. 2010;95:4712-9 pubmed publisher
    b>Zinc transporter 8 (ZnT8) is a newly discovered islet autoantigen in human type 1A diabetes (T1D)...
  63. Masala S, Paccagnini D, Cossu D, Brezar V, Pacifico A, Ahmed N, et al. Antibodies recognizing Mycobacterium avium paratuberculosis epitopes cross-react with the beta-cell antigen ZnT8 in Sardinian type 1 diabetic patients. PLoS ONE. 2011;6:e26931 pubmed publisher
    ..against one of these proteins, namely MAP3865c, which displays a sequence homology with the ?-cell protein zinc transporter 8 (ZnT8) could be cross-reactive with ZnT8 epitopes...