SLC30A8, solute carrier family 30 member 8, 169026

N. diseases: 63; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE ZnT8 was therefore proposed as a therapeutic target for diabetes, and recent genome-wide association studies identified polymorphisms in the ZNT8 gene conferring increased type 2 diabetes risk. 19095428 2009
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE SLC30A8 genotype strongly influenced ZnT8A type and diabetes risk in ZnT8A-COOH-positive children. 19590848 2009
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE ZnT8-TripleA was detected in 1678 (65%) patients with T1D, 4 (9%) T2D, 3 (11%) MODY and in none (0%) of the patients with secondary diabetes. 21708156 2011
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE ZnT8-ab are associated with more acute diabetes onset. 29327148 2018
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE ZnT8-ab positive patients had higher titre and more frequent occurrence of multiple diabetes-related autoantibodies than ZnT8-ab negative patients. 30465779 2018
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE A rare variant association study has now established the direction of effect, surprisingly showing that loss-of-function mutations in SLC30A8 are protective against diabetes. 24675520 2014
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE A registry-based group of 288 persistently autoantibody-positive (Ab(+)) offspring/siblings (aged 0-39 years) of known patients (Ab(+) against insulin, GAD, IA-2 and/or ZnT8) were typed for HLA-DQ, -A and -B and monitored from the first Ab(+) sample for development of diabetes within 5 years. 23712485 2013
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE A total of 31 Somali children ≤19 yr were treated for type 1 diabetes (T1D) at the University of Minnesota Masonic Children's Hospital and Children's Hospitals and Clinics of Minnesota underwent analysis of human leukocyte antigen (HLA) alleles (n = 30) and diabetes autoantibodies [glutamic acid decarboxylase (GAD65), islet antigen 2 (IA-2), zinc transporter 8 (ZnT8); n = 31]. 26854192 2017
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE A total of 97 subjects with diabetes onset before age 25, a random C-peptide ≥0.1 ng/mL, and negative for all diabetes autoantibodies (GADA, IA-2, ZnT8, and IAA) were enrolled, after excluding 21 subjects with secondary diabetes or refusal to participate. 26059258 2016
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Associations between ZnT8 antibody (ZnT8A), phenotype and the genetic variant rs13266634 in the SLC30A8 gene have primarily been studied in patients with young-onset diabetes. 23061550 2013
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Autoantibody-negative patients were retested at median diabetes duration of 3.2 yr (range 0.9-16.2) for autoantibodies (GAD, IA2, ZnT8), human leukocyte antigen (HLA) typing, non-fasting C-peptide, and sequencing of HNF4A, HNF1A, KCNJ11, and INS. 21518407 2011
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Blood samples were obtained from 900 patients with age from 1 month to 25 years (median age 11.1 years) within 2 weeks of diabetes onset to test anti-islet autoantibodies to insulin (IAA), glutamic acid decarboxylase (GADA), insulinoma antigen (IA-2AA), the zinc transporter-8 (ZnT8AA), and islet-cell antibodies (ICA). 21138544 2011
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Children, younger than 15 years of age (n = 723) who were newly diagnosed with diabetes, were analyzed for ZnT8A, other diabetes-associated autoantibodies, HLA DR-DQ alleles, and metabolic status, which was monitored by pH, plasma glucose, and occurrence of ketoacidosis at diagnosis and through follow-up of C-peptide concentrations, exogenous insulin dose, and glycosylated hemoglobin for 2 years after the diagnosis. 26519333 2016
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE DESIGN/OUTCOME: We sequenced exons in SLC30A8 in 380 Diabetes Prevention Program (DPP) participants and identified 44 novel variants, which were genotyped in 3445 DPP participants and tested for association with diabetes incidence and measures of insulin secretion and processing. 24471563 2014
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Despite the emerging consensus on the role of ZnT8 in glucose homeostasis, a recent genetic study in humans has unexpectedly identified loss-of-function SLC30A8 mutants that are associated with protection from diabetes. 25287711 2015
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Genetic and physiological studies suggest a role for the zinc transporter gene SLC30A8 in diabetes risk, possibly through effects on insulin-processing in beta cells. 21779873 2011
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Here we characterize an emerging role of ZnT-8 in diabetes and discuss potential mechanisms of its involvement in the etiology of both forms of diabetes. 19655390 2009
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Here, we review the regulation and roles of Zn<sup>2+</sup> ions in islet cells, the mechanisms through which SLC30A8 variants might affect glucose homeostasis and diabetes risk, and the novel technologies including recombinant targeted zinc probes and knockout mice which have been developed to explore these questions. 27262257 2016
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE However, those with later onset type 1 diabetes had a modestly lower type 1 diabetes genetic risk score (0.268 vs 0.279; p < 0.001 [expected type 2 diabetes population median, 0.231]), a higher islet autoantibody prevalence (GAD-, islet antigen 2 [IA2]- or zinc transporter protein 8 [ZnT8]-positive) of 78% at 13 years vs 62% at 26 years of diabetes duration; (p = 0.02), and were less likely to identify as having type 1 diabetes (79% vs 100%; p < 0.001) vs those with young-onset disease. 30969375 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 AlteredExpression disease BEFREE In both animal models of diabetes, ZnT8 expression was remarkably downregulated in the early stage of diabetes. 21099260 2011
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE In contrast, variants near insulin-like growth factor-binding protein 2 (IGFBP2), CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), solute carreir family 30 (zinc transporter), member 8 (SLC30A8), hematopoietically-expressed homeobox (HHEX), and transcription factor 7-like2 (TCF7L2) were clearly associated with diabetes; no evidence for an association to CAC was observable. 20616309 2010
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE In the present review, we summarize the literature about clinical aspects of ZnT8 in the pathogenesis of diabetes, and suggest that ZnT8 might play a different role between type 1 diabetes mellitus and type 2 diabetes mellitus. 27181765 2016
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE In the present study, we examined the association between variants in fat mass- and obesity-associated [rs9939609 (A/T)], melanocortin 4 receptor [rs17782313 (C/T), and rs12970134 (A/G)], SLC30A8 [rs13266634 (C/T)], and a member of the potassium voltage-gated channels [rs2237892(C/T)] genes in diabetes patients from Saudi Arabia. 25501231 2014
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE In this review, we summarize the structure, feature, functions, and polymorphisms of ZnT8 along with its association with diabetes and explore future study directions. 30936916 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE It argues against ZnT8 autoimmunity arising from molecular mimicry and suggests a mechanistic link between the two major forms of diabetes. 18591387 2008