ArticleNature genetics2013
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion.
Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 183 papers, 9 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
183 citing papers in PubMed, 9 syntheses or guidelines pooled it, 293 citations in OpenAlex.
- The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.Nature communications · 2022Pooled it
- Genome-wide meta-analysis associates GPSM1 with type 2 diabetes, a plausible gene involved in skeletal muscle function.Journal of human genetics · 2020Pooled it
- A large-scale exome array analysis of venous thromboembolism.Genetic epidemiology · 2019Pooled it
- Shared genetic architecture between metabolic traits and Alzheimer's disease: a large-scale genome-wide cross-trait analysis.Human genetics · 2019Pooled it
- Evaluation of pleiotropic effects among common genetic loci identified for cardio-metabolic traits in a Korean population.Cardiovascular diabetology · 2016Pooled it
- Trans-ethnic meta-analysis identifies common and rare variants associated with hepatocyte growth factor levels in the Multi-Ethnic Study of Atherosclerosis (MESA).Annals of human genetics · 2015Pooled it
- Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.Diabetes · 2015Pooled it
- A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.Human molecular genetics · 2014Pooled it
- Pooled it
- Trial
- Exome sequencing-based identification of novel type 2 diabetes risk allele loci in the Qatari population.PloS one · 2018Trial
- Genetic variation at glucose and insulin trait loci and response to glucose-insulin-potassium (GIK) therapy: the IMMEDIATE trial.The pharmacogenomics journal · 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
- Single-cell perturbations decipher ribosomal stress-surveillance regulators in type 2 diabetes.Nature metabolism · 2026Article
- From omics to AI-mapping the pathogenic pathways in type 2 diabetes.FEBS letters · 2025Review
- Polygenic risk scores of fasting insulin and insulin-related traits in a Taiwanese Han population.Cell & bioscience · 2025Article
- TBC1D30 regulates proinsulin and insulin secretion and is the target of a genomic association signal for proinsulin.Diabetologia · 2025Article
- Deficiency of Peptidylglycine-alpha-amidating Monooxygenase, a Cause of Sarcopenic Diabetes Mellitus.The Journal of clinical endocrinology and metabolism · 2025Article
- Insulin-related traits and prostate cancer: A Mendelian randomization study.Computational and structural biotechnology journal · 2024Article
- Histone lactylation mediated by Fam172a in POMC neurons regulates energy balance.Nature communications · 2024Article
123 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
29 authors at 10 institutions in 2 countries.
Funding
Abstract
Insulin secretion has a crucial role in glucose homeostasis, and failure to secrete sufficient insulin is a hallmark of type 2 diabetes. Genome-wide association studies (GWAS) have identified loci contributing to insulin processing and secretion; however, a substantial fraction of the genetic contribution remains undefined. To examine low-frequency (minor allele frequency (MAF) 0.5-5%) and rare (MAF < 0.5%) nonsynonymous variants, we analyzed exome array data in 8,229 nondiabetic Finnish males using the Illumina HumanExome Beadchip. We identified low-frequency coding variants associated with fasting proinsulin concentrations at the SGSM2 and MADD GWAS loci and three new genes with low-frequency variants associated with fasting proinsulin or insulinogenic index: TBC1D30, KANK1 and PAM. We also show that the interpretation of single-variant and gene-based tests needs to consider the effects of noncoding SNPs both nearby and megabases away. This study demonstrates that exome array genotyping is a valuable approach to identify low-frequency variants that contribute to complex traits.
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Registered trials
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.