Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Journal
Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462
Informations de publication
Date de publication:
06 2019
06 2019
Historique:
received:
06
06
2018
accepted:
23
04
2019
pubmed:
24
5
2019
medline:
19
9
2019
entrez:
24
5
2019
Statut:
ppublish
Résumé
Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with type 2 diabetes (T2D) and 24,440 non-diabetic control participants from 5 ancestries. We identify gene-level associations of rare variants (with minor allele frequencies of less than 0.5%) in 4 genes at exome-wide significance, including a series of more than 30 SLC30A8 alleles that conveys protection against T2D, and in 12 gene sets, including those corresponding to T2D drug targets (P = 6.1 × 10
Identifiants
pubmed: 31118516
doi: 10.1038/s41586-019-1231-2
pii: 10.1038/s41586-019-1231-2
pmc: PMC6699738
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
71-76Subventions
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Commentaires et corrections
Type : CommentIn
Type : CommentIn
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