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Exome sequencing of...
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Flannick, JasonHarvard University,Broad Institute,Boston Children's Hospital
(författare)
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls
- Artikel/kapitelEngelska2019
Förlag, utgivningsår, omfång ...
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2019-05-22
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Springer Science and Business Media LLC,2019
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6 s.
Nummerbeteckningar
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LIBRIS-ID:oai:lup.lub.lu.se:a103c3ae-8efd-49b4-b46e-00911b9ecff8
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https://lup.lub.lu.se/record/a103c3ae-8efd-49b4-b46e-00911b9ecff8URI
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https://doi.org/10.1038/s41586-019-1231-2DOI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:art swepub-publicationtype
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Ämneskategori:ref swepub-contenttype
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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 × 10−3) and candidate genes from knockout mice (P = 5.2 × 10−3). Within our study, the strongest T2D gene-level signals for rare variants explain at most 25% of the heritability of the strongest common single-variant signals, and the gene-level effect sizes of the rare variants that we observed in established T2D drug targets will require 75,000–185,000 sequenced cases to achieve exome-wide significance. We propose a method to interpret these modest rare-variant associations and to incorporate these associations into future target or gene prioritization efforts. © 2019, The Author(s), under exclusive licence to Springer Nature Limited.
Ämnesord och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Lyssenko, ValeriyaLund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups,University of Bergen(Swepub:lu)endo-vly
(författare)
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Groop, LeifLund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups(Swepub:lu)endo-lgr
(författare)
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Nilsson, PeterLund University,Lunds universitet,Enheten för medicinens historia,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,History of Medicine,Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Internal Medicine - Epidemiology,Lund University Research Groups(Swepub:lu)medf-pni
(författare)
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Boehnke, MichaelUniversity of Michigan
(författare)
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Harvard UniversityBroad Institute
(creator_code:org_t)
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DiscovEHR Collaboration
Sammanhörande titlar
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Ingår i:Nature: Springer Science and Business Media LLC570:7759, s. 71-760028-08361476-4687
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