Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.

doi:10.1038/s41588-024-01947-9

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.

Nature genetics - 1 Nov 2024

Huerta-Chagoya Alicia, Schroeder Philip, Mandla Ravi, Li Jiang, Morris Lowri, Vora Maheak, Alkanaq Ahmed, Nagy Dorka, Szczerbinski Lukasz, Madsen Jesper G S, Bonàs-Guarch Silvia, Mollandin Fanny, Cole Joanne B, Porneala Bianca, Westerman Kenneth, Li Josephine H, Pollin Toni I, Florez Jose C, Gloyn Anna L, Carey David J, Cebola Inês, Mirshahi Uyenlinh L, Manning Alisa K, Leong Aaron, Udler Miriam, Mercader Josep M

Abstract excerpt

Type 2 diabetes (T2D) genome-wide association studies (GWASs) often overlook rare variants as a result of previous imputation panels' limitations and scarce whole-genome sequencing (WGS) data. We used TOPMed imputation and WGS to conduct the largest T2D GWAS meta-analysis involving 51,256 cases of T2D and 370,487 controls, targeting variants with a minor allele frequency as low as 5 × 10-5. We identified 12 new...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Case-Control Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diabetes Mellitus, Type 2

Share to Gene Frequency

Share to Genetic Variation

Share to Genome-Wide Association Study

Share to Hepatocyte Nuclear Factor 4

Share to Polymorphism, Single Nucleotide

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 39379762
DOI: 10.1038/s41588-024-01947-9
PMCID: PMC11549050

Genes

GCK
HNF1A
HNF4A
LEP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.PMID 39379762Read ↗

Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genesSemantic proximity Read ↗

Analysis of rare coding variants in 470,000 exome-sequenced subjects characterises contributions to risk of type 2 diabetesSemantic proximity Read ↗

Analysis of rare coding variants in 470,000 exome-sequenced subjects characterises contributions to risk of type 2 diabetes.Semantic proximity Read ↗

Type 2 diabetes genetics in 125,000 admixed adults from Mexico CitySemantic proximity Read ↗

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.Semantic proximity Read ↗

Population-Scale, Genotype-First Characterization of Monogenic Diabetes in 374,973 Multi-Ancestry Individuals from the <i>All of Us</i> Research ProgramSemantic proximity Read ↗

Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program.Semantic proximity Read ↗

Monogenic Childhood Diabetes: Dissecting Clinical Heterogeneity by Next-Generation Sequencing in Maturity-Onset Diabetes of the Young.Semantic proximity Read ↗

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome mapsSemantic proximity Read ↗

Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.Semantic proximity Read ↗

Pathogenic variants in actionable MODY genes are associated with type 2 diabetes.Semantic proximity Read ↗

An ancestry-enriched HNF4A variant and GP2 reveal distinct mechanisms of type 2 diabetes in exome-wide study of 13,674 cases and 41,024 controlsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.