ArticleDiabetes2015
ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes.
Article in Diabetes, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.
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Who cites it
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 61 citations in OpenAlex.
- Pooled it
- Clinical and Genetic Characteristics ofJournal of diabetes research · 2021Pooled it
- The Use of Population Isolates to Identify Metabolic Syndrome's Genetic Aetiology.Molecular genetics & genomic medicine · 2026Review
- Is high insulin protective or detrimental? Mathematical modeling reveals the base of the iceberg.American journal of physiology. Endocrinology and metabolism · 2026Article
- Modelling the effects of human SUR1 R1420H variation on insulin secretory function using isogenic iPSC-derived pancreatic islets.Diabetologia · 2026Article
- Paradoxical Maturity-Onset Diabetes of the Young Arising From Loss-of-Function Mutations in ATP-Sensitive Potassium Channels.Diabetes · 2026Article
- Hyperglycaemia in pregnancy: the role of ethnicity and geography in risk and outcomes.Diabetologia · 2025Review
- Polygenic score from MODY genes is associated with type 1 diabetes and disease characteristics.Acta diabetologica · 2025Article
- Phenotypic and Genetic Diversity in Diabetes Across Populations.The Journal of clinical endocrinology and metabolism · 2025Review
- Effect of acute exercise in carriers of TBC1D4 mutation.Nature metabolism · 2024Article
- Erythropoietin regulates energy metabolism through EPO-EpoR-RUNX1 axis.Nature communications · 2024Article
- The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion.Current diabetes reports · 2024Review
- Analysis of an adult diabetes mellitus caused by a rare mutation of the gene: A case report.World journal of clinical cases · 2024Article
- Effects of theBMJ open diabetes research & care · 2023Article
- Ascending aortic aneurysm and histopathology in Alport syndrome: a case report.BMC nephrology · 2023Article
- Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.Journal of diabetes investigation · 2023Article
- Diagnostic criteria and etiopathogenesis of type 2 diabetes and its complications: Lessons from the Pima Indians.Presse medicale (Paris, France : 1983) · 2023Review
- A novel splice-affectingThe Lancet regional health. Europe · 2023Article
- AnHGG advances · 2022Article
- Protective Effect of Maternal First-Trimester Low Body Mass Index Against Macrosomia: A 10-Year Cross-Sectional Study.Frontiers in endocrinology · 2022Article
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16 authors at 3 institutions in 1 country.
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Abstract
Missense variants in KCNJ11 and ABCC8, which encode the KIR6.2 and SUR1 subunits of the β-cell KATP channel, have previously been implicated in type 2 diabetes, neonatal diabetes, and hyperinsulinemic hypoglycemia of infancy (HHI). To determine whether variation in these genes affects risk for type 2 diabetes or increased birth weight as a consequence of fetal hyperinsulinemia in Pima Indians, missense and common noncoding variants were analyzed in individuals living in the Gila River Indian Community. A R1420H variant in SUR1 (ABCC8) was identified in 3.3% of the population (N = 7,710). R1420H carriers had higher mean birth weights and a twofold increased risk for type 2 diabetes with a 7-year earlier onset age despite being leaner than noncarriers. One individual homozygous for R1420H was identified; retrospective review of his medical records was consistent with HHI and a diagnosis of diabetes at age 3.5 years. In vitro studies showed that the R1420H substitution decreases KATP channel activity. Identification of this loss-of-function variant in ABCC8 with a carrier frequency of 3.3% affects clinical care as homozygous inheritance and potential HHI will occur in 1/3,600 births in this American Indian population.
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