ArticleNature genetics2014
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes.
Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 184 papers, 13 of them syntheses that pooled it.
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Who cites it
184 citing papers in PubMed, 13 syntheses or guidelines pooled it, 329 citations in OpenAlex.
- Cross-ancestry genome-wide association studies of liver function biomarkers uncover pleiotropic variants, systemic disease links and therapeutic targets.Genome medicine · 2026Pooled it
- DNA methylation and stroke prognosis: an epigenome-wide association study.Clinical epigenetics · 2024Pooled it
- TIGER: The gene expression regulatory variation landscape of human pancreatic islets.Cell reports · 2021Pooled it
- Genetic variants associated with platelet count are predictive of human disease and physiological markers.Communications biology · 2021Pooled it
- Adipose Tissue Epigenetic Profile in Obesity-Related Dysglycemia - A Systematic Review.Frontiers in endocrinology · 2021Pooled it
- Burden of rare exome sequence variants in PROC gene is associated with venous thromboembolism: a population-based study.Journal of thrombosis and haemostasis : JTH · 2020Pooled it
- Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.Nature genetics · 2019Pooled it
- Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.Nature communications · 2018Pooled it
- Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.Nature genetics · 2018Pooled it
- Genome-wide analysis yields new loci associating with aortic valve stenosis.Nature communications · 2018Pooled it
- Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes.Nature communications · 2016Pooled it
- Association between SLC30A8 rs13266634 Polymorphism and Type 2 Diabetes Risk: A Meta-Analysis.Medical science monitor : international medical journal of experimental and clinical research · 2015Pooled it
- Variants associated with type 2 diabetes identified by the transethnic meta-analysis study: assessment in American Indians and evidence for a new signal in LPP.Diabetologia · 2014Pooled it
- Association Between KCNQ1 Genetic Variants and Type 2 Diabetes in the Uyghur Population.Genetic testing and molecular biomarkers · 2015Trial
- Type 2 diabetes risk alleles in peptidyl-glycine alpha-amidating monooxygenase influence GLP-1 levels and response to GLP-1 receptor agonists.Genome medicine · 2026Article
- Functional ADAM12 variants modulate proteolytic activity and influence metabolic traits.Scientific reports · 2026Article
- Educational attainment and diabetes risk: triangulation evidence from UK Biobank prospective cohort, NHANES 2011-2018, and cross-trait genomics analyses.Frontiers in endocrinology · 2026Article
- Functional consequences of calmodulin variants identified among schizophrenia patients and controls.Translational psychiatry · 2025Article
- From omics to AI-mapping the pathogenic pathways in type 2 diabetes.FEBS letters · 2025Review
- Knockoff procedure improves susceptibility gene identifications in conditional transcriptome-wide association studies.American journal of human genetics · 2025Article
124 more citing papers are in PubMed but not listed here.
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Authors and funding
34 authors at 9 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Through whole-genome sequencing of 2,630 Icelanders and imputation into 11,114 Icelandic cases and 267,140 controls followed by testing in Danish and Iranian samples, we discovered 4 previously unreported variants affecting risk of type 2 diabetes (T2D). A low-frequency (1.47%) variant in intron 1 of CCND2, rs76895963[G], reduces risk of T2D by half (odds ratio (OR) = 0.53, P = 5.0 × 10(-21)) and is correlated with increased CCND2 expression. Notably, this variant is also associated with both greater height and higher body mass index (1.17 cm per allele, P = 5.5 × 10(-12) and 0.56 kg/m(2) per allele, P = 6.5 × 10(-7), respectively). In addition, two missense variants in PAM, encoding p.Asp563Gly (frequency of 4.98%) and p.Ser539Trp (frequency of 0.65%), confer moderately higher risk of T2D (OR = 1.23, P = 3.9 × 10(-10) and OR = 1.47, P = 1.7 × 10(-5), respectively), and a rare (0.20%) frameshift variant in PDX1, encoding p.Gly218Alafs*12, associates with high risk of T2D (OR = 2.27, P = 7.3 × 10(-7)).
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.