ArticleDiabetologia2018
Identification of novel high-impact recessively inherited type 2 diabetes risk variants in the Greenlandic population.
Article in Diabetologia, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Recessive Genome-Wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes.Diabetes · 2022Pooled it
- Societal and biological approaches to diabetes prevention and care for Inuit populations: a narrative review.Diabetologia · 2025Review
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- Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake.Nature genetics · 2023Article
- A novel splice-affectingThe Lancet regional health. Europe · 2023Article
- The impact of non-additive genetic associations on age-related complex diseases.Nature communications · 2021Article
- Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk.Frontiers in oncology · 2021Article
- The Opportunities and Challenges of Integrating Population Histories Into Genetic Studies for Diverse Populations: A Motivating Example From Native Hawaiians.Frontiers in genetics · 2021Article
- Article
- The derived allele of a novel intergenic variant at chromosome 11 associates with lower body mass index and a favorable metabolic phenotype in Greenlanders.PLoS genetics · 2020Article
- Point mutations in the PDX1 transactivation domain impair human β-cell development and function.Molecular metabolism · 2019Article
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 3 countries.
Funding
Abstract
aims/hypothesisIn a recent study using a standard additive genetic model, we identified a TBC1D4 loss-of-function variant with a large recessive impact on risk of type 2 diabetes in Greenlanders. The aim of the current study was to identify additional genetic variation underlying type 2 diabetes using a recessive genetic model, thereby increasing the power to detect variants with recessive effects.
methodsWe investigated three cohorts of Greenlanders (B99, n = 1401; IHIT, n = 3115; and BBH, n = 547), which were genotyped using Illumina MetaboChip. Of the 4674 genotyped individuals passing quality control, 4648 had phenotype data available, and type 2 diabetes association analyses were performed for 317 individuals with type 2 diabetes and 2631 participants with normal glucose tolerance. Statistical association analyses were performed using a linear mixed model.
resultsUsing a recessive genetic model, we identified two novel loci associated with type 2 diabetes in Greenlanders, namely rs870992 in ITGA1 on chromosome 5 (OR 2.79, p = 1.8 × 10 CONCLUSIONS/
interpretationWe demonstrate the value of using a recessive genetic model in a historically small and isolated population to identify genetic risk variants. Our findings give new insights into the genetic architecture of type 2 diabetes, and further support the existence of high-effect genetic risk factors of potential clinical relevance, particularly in isolated populations. DATA AVAILABILITY: The Greenlandic MetaboChip-genotype data are available at European Genome-Phenome Archive (EGA; https://ega-archive.org/ ) under the accession EGAS00001002641.
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