Diabetes and associated disorders

Genetics of Low Polygenic Risk Score Type 1 Diabetes Patients: rare variants in 22 novel loci

This study identifies 22 novel genetic loci associated with low polygenic risk score type 1 diabetes by analyzing rare variants in two independent cohorts.

Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes

This study identifies causal variants, cells, genes, and drug targets for type 1 diabetes using large-scale genetic and functional genomic analyses.

Large-scale genetic association and single cell accessible chromatin mapping defines cell type-specific mechanisms of type 1 diabetes risk

This study combines large-scale GWAS and single-cell epigenomics to identify cell type-specific mechanisms of type 1 diabetes risk.

Multiomics single-cell analysis of human pancreatic islets reveals novel cellular states in health and type 1 diabetes

3DFAACTS-SNP: Using regulatory T cell-specific epigenomics data to uncover candidate mechanisms of Type-1 Diabetes (T1D) risk

This paper introduces 3DFAACTS-SNP, a workflow that identifies T1D risk variants with regulatory mechanisms using Treg-specific epigenomic data, finding 36 candidate SNPs and 51 target genes.

The impact of pro-inflammatory cytokines on the β-cell regulatory landscape provides new insights into the genetics of type 1 diabetes

This study shows that pro-inflammatory cytokines reveal plasticity in β-cell regulatory landscapes and identify T1D-associated variants disrupting cytokine-responsive enhancers.

Specific type 1 diabetes risk genes underpin age-at-diagnosis and indicate joint defects in immunity, beta-cell fragility and responses to viral infections in early-onset disease.

The paper identifies genetic risk factors associated with early-onset type 1 diabetes, showing stronger effects in children diagnosed before age 7 compared to those diagnosed at 13 or older.

Metabolic Alterations in Human Peripheral Blood Mononuclear Cells Associate with Progression to Islet Autoimmunity and Type 1 Diabetes

The paper identifies metabolic patterns in PBMCs associated with progression to islet autoimmunity and T1D using longitudinal metabolomics and metabolic modeling.

Common patterns of gene regulation associated with Cesarean section and the development of islet autoimmunity -- indications of immune cell activation

The paper identifies gene expression patterns linked to Cesarean section and islet autoimmunity, showing shared transcriptional changes associated with immune cell activation.

Type 1 diabetes mellitus-associated genetic variants contribute to overlapping immune regulatory networks

This study identifies immune regulatory networks influenced by T1D-associated genetic variants using 3D genome organization and gene expression data.

Dexi disruption depletes gut microbial metabolites and accelerates autoimmune diabetes

Disruption of the Dexi gene accelerates diabetes in NOD mice and alters serum immunoglobulins, gut microbiome, and microbial metabolites.

Identification of loci where DNA methylation potentially mediates genetic risk of type 1 diabetes

The paper investigates whether DNA methylation mediates genetic risk for type 1 diabetes by analyzing SNP-methylation associations across different life stages.

Shared genetic contribution to type 1 and type 2 diabetes risk

This study identifies shared genetic risk factors between type 1 and type 2 diabetes, showing overlapping regulatory elements and causal variants affecting islet function and growth.

Type 1 diabetes genome-wide association analysis with imputation identifies five new risk regions

A rare IL2RA haplotype identifies SNP rs61839660 as causal for autoimmunity

The paper identifies SNP rs61839660 as the causal variant for autoimmunity by showing its loss reduces IL2RA expression and T1D protection.