ArticleScientific reports2021
Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Discovery of obesity genes through cross-ancestry analysis.Nature communications · 2025Pooled it
- The central role of the β-cell in diabetes: from monogenic forms to type 1, type 2, and gestational diabetes.Reviews in endocrine & metabolic disorders · 2026Review
- The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration.medRxiv : the preprint server for health sciences · 2026Article
- The Impact of Maternal Obesity and Diabetes on the Development of Congenital Heart Defects (CHDs) in Offspring: A Narrative Review.Metabolites · 2026Review
- Systematic common and rare variant association testing in 392,030 whole genomes inmedRxiv : the preprint server for health sciences · 2026Article
- The role of the beta cell in type 2 diabetes: new findings from the last 5 years.Diabetologia · 2025Review
- Deficiency of Peptidylglycine-alpha-amidating Monooxygenase, a Cause of Sarcopenic Diabetes Mellitus.The Journal of clinical endocrinology and metabolism · 2025Article
- Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease.European journal of human genetics : EJHG · 2024Article
- Profiling of differentially expressed MicroRNAs in familial hypercholesterolemia via direct hybridization.Non-coding RNA research · 2024Article
- Rare coding variant analysis for human diseases across biobanks and ancestries.Nature genetics · 2024Article
- Analysis of rare coding variants in 470,000 exome-sequenced subjects characterises contributions to risk of type 2 diabetes.PloS one · 2024Article
- MX1 and UBE2L6 are potential metaflammation gene targets in both diabetes and atherosclerosis.PeerJ · 2024Article
- Functional interrogation of twenty type 2 diabetes-associated genes using isogenic human embryonic stem cell-derived β-like cells.Cell metabolism · 2023Article
- Genome mining yields putative disease-associated ROMK variants with distinct defects.PLoS genetics · 2023Article
- Article
- Bioinformatic and rare-variant collapsing analyses for type 1 and type 2 diabetes in the UK Biobank reveal novel pleiotropic susceptibility loci.Journal of diabetes · 2023Article
- Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.Cell genomics · 2023Article
- The impact of rare protein coding genetic variation on adult cognitive function.Nature genetics · 2023Article
- Scalable mixed model methods for set-based association studies on large-scale categorical data analysis and its application to exome-sequencing data in UK Biobank.American journal of human genetics · 2023Article
- Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank.American journal of human genetics · 2023Article
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
Sequencing of large cohorts offers an unprecedented opportunity to identify rare genetic variants and to find novel contributors to human disease. We used gene-based collapsing tests to identify genes associated with glucose, HbA1c and type 2 diabetes (T2D) diagnosis in 379,066 exome-sequenced participants in the UK Biobank. We identified associations for variants in GCK, HNF1A and PDX1, which are known to be involved in Mendelian forms of diabetes. Notably, we uncovered novel associations for GIGYF1, a gene not previously implicated by human genetics in diabetes. GIGYF1 predicted loss of function (pLOF) variants associated with increased levels of glucose (0.77 mmol/L increase, p = 4.42 × 10
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