ArticleNature communications2016
The genetic regulatory signature of type 2 diabetes in human skeletal muscle.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers, 5 of them syntheses that pooled it.
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Who cites it
94 citing papers in PubMed, 5 syntheses or guidelines pooled it, 148 citations in OpenAlex.
- Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits.American journal of human genetics · 2025Pooled it
- Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits.Nature genetics · 2025Pooled it
- ACE2 expression in adipose tissue is associated with cardio-metabolic risk factors and cell type composition-implications for COVID-19.International journal of obesity (2005) · 2022Pooled it
- Pooled 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
- Article
- Machine Learning-Derived Sarcopenia Signature Identifies High-Risk Molecular State in T2D Skeletal Muscle.Cell biochemistry and biophysics · 2026Article
- Bridging the variant-to-function gap in type 2 diabetes: advances and challenges.Diabetologia · 2026Review
- Genome writing and Targeted Delivery of thebioRxiv : the preprint server for biology · 2026Article
- RNAi-based motility screen of predicted sarcopenia-associated genes during aging inmicroPublication 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
- Advanced Gene-Expression Analysis of Skeletal Muscles Focusing on Normal, Glucose-Intolerant, and Diabetic Individuals with Type 2 Diabetes.Biomedicines · 2025Article
- Extensive differential gene expression and regulation by sex in human skeletal muscle.Cell genomics · 2025Article
- The skeletal muscle response to high-intensity training assessed by single-nucleus RNA-sequencing is blunted in individuals with type 2 diabetes.The Journal of physiology · 2025Article
- Variant-to-function approaches for adipose tissue: Insights into cardiometabolic disorders.Cell genomics · 2025Review
- Functional dissection of metabolic trait-associated gene regulation in steady state and stimulated human skeletal muscle cells.bioRxiv : the preprint server for biology · 2025Article
- Population-scale skeletal muscle single-nucleus multi-omic profiling reveals extensive context specific genetic regulation.bioRxiv : the preprint server for biology · 2024Article
- Transcriptome-wide Mendelian randomization during CD4Nature communications · 2024Article
- Network-based modelling reveals cell-type enriched patterns of non-coding RNA regulation during human skeletal muscle remodelling.bioRxiv : the preprint server for biology · 2024Article
- Network-based modelling reveals cell-type enriched patterns of non-coding RNA regulation during human skeletal muscle remodelling.NAR molecular medicine · 2024Article
34 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
32 authors at 11 institutions in 4 countries.
Funding
Abstract
Type 2 diabetes (T2D) results from the combined effects of genetic and environmental factors on multiple tissues over time. Of the >100 variants associated with T2D and related traits in genome-wide association studies (GWAS), >90% occur in non-coding regions, suggesting a strong regulatory component to T2D risk. Here to understand how T2D status, metabolic traits and genetic variation influence gene expression, we analyse skeletal muscle biopsies from 271 well-phenotyped Finnish participants with glucose tolerance ranging from normal to newly diagnosed T2D. We perform high-depth strand-specific mRNA-sequencing and dense genotyping. Computational integration of these data with epigenome data, including ATAC-seq on skeletal muscle, and transcriptome data across diverse tissues reveals that the tissue-specific genetic regulatory architecture of skeletal muscle is highly enriched in muscle stretch/super enhancers, including some that overlap T2D GWAS variants. In one such example, T2D risk alleles residing in a muscle stretch/super enhancer are linked to increased expression and alternative splicing of muscle-specific isoforms of ANK1.
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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.