ArticleScientific reports2016
A novel type 2 diabetes risk allele increases the promoter activity of the muscle-specific small ankyrin 1 gene.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- Pooled it
- GWAS-by-subtraction reveals new genetic architecture and health implications of type 2 diabetes-independent gestational diabetes mellitus.Genome medicine · 2026Article
- Diabetes affects the composition of the respiratory tract microbiome and transcriptome in patients with viral pneumonia.Microbiology spectrum · 2026Article
- An atlas of genetic effects on the monocyte methylome across European and African populations.Genome medicine · 2026Article
- Genome writing and Targeted Delivery of thebioRxiv : the preprint server for biology · 2026Article
- Impact of polymorphisms on gene expression and splicing in response to exercise and diet-induced weight loss in human skeletal muscle tissues.Cell genomics · 2025Article
- Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways.Metabolic brain disease · 2024Article
- Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes.Scientific reports · 2024Article
- Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans.Human genetics · 2023Article
- Skeletal muscle overexpression of sAnk1.5 in transgenic mice does not predispose to type 2 diabetes.Scientific reports · 2023Article
- Small ankyrin 1 (sANK1) promotes docetaxel resistance in castration-resistant prostate cancer cells by enhancing oxidative phosphorylation.FEBS open bio · 2023Article
- Early-Onset Diabetes Mellitus in Chromosome 8p11.2 Deletion Syndrome Combined With Becker Muscular Dystrophy - A Case Report.Frontiers in endocrinology · 2022Article
- Article
- Mapping the genetic basis of diabetes mellitus in the Australian Burmese cat (Felis catus).Scientific reports · 2020Article
- Genomic annotation of disease-associated variants reveals shared functional contexts.Diabetologia · 2019Review
- Genome-wide gene-based analyses of weight loss interventions identify a potential role for NKX6.3 in metabolism.Nature communications · 2019Article
- Multifaceted Interweaving Between Extracellular Matrix, Insulin Resistance, and Skeletal Muscle.Cells · 2018Review
- Association of ANK1 variants with new-onset type 2 diabetes in a Han Chinese population from northeast China.Experimental and therapeutic medicine · 2017Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies have identified Ankyrin-1 (ANK1) as a common type 2 diabetes (T2D) susceptibility locus. However, the underlying causal variants and functional mechanisms remain unknown. We screened for 8 tag single nucleotide polymorphisms (SNPs) in ANK1 between 2 case-control studies. Genotype analysis revealed significant associations of 3 SNPs, rs508419 (first identified here), rs515071, and rs516946 with T2D (P < 0.001). These SNPs were in linkage disequilibrium (r(2) > 0.80); subsequent analysis indicated that the CCC haplotype associated with increased T2D susceptibility (OR 1.447, P < 0.001). Further mapping showed that rs508419 resides in the muscle-specific ANK1 gene promoter. Allele-specific mRNA and protein level measurements confirmed association of the C allele with increased small ANK1 (sAnk1) expression in human skeletal muscle (P = 0.018 and P < 0.001, respectively). Luciferase assays showed increased rs508419-C allele transcriptional activity in murine skeletal muscle C2C12 myoblasts, and electrophoretic mobility-shift assays demonstrated altered rs508419 DNA-protein complex formation. Glucose uptake was decreased with excess sAnk1 expression upon insulin stimulation. Thus, the ANK1 rs508419-C T2D-risk allele alters DNA-protein complex binding leading to increased promoter activity and sAnk1 expression; thus, increased sAnk1 expression in skeletal muscle might contribute to T2D susceptibility.
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