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Journal article

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Abstract:

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 T2...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41586-019-1231-2

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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
ORCID:
0000-0001-5585-3420
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Contributors

Role:
Contributor
Role:
Contributor
Role:
Contributor
Role:
Contributor
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Publisher:
Springer Nature Publisher's website
Journal:
Nature Journal website
Volume:
570
Pages:
71-76
Publication date:
2019-06-06
Acceptance date:
2019-04-23
DOI:
EISSN:
1476-4687
ISSN:
0028-0836
Pmid:
31118516
Source identifiers:
1003151
Language:
English
Pubs id:
pubs:1003151
UUID:
uuid:e433687f-f651-4dad-8a6b-07b396121073
Local pid:
pubs:1003151
Deposit date:
2019-07-12

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