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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03992naa a2200409 4500 | |
| 001 | oai:lup.lub.lu.se:a103c3ae-8efd-49b4-b46e-00911b9ecff8 | |
| 003 | SwePub | |
| 008 | 190618s2019 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://lup.lub.lu.se/record/a103c3ae-8efd-49b4-b46e-00911b9ecff82 URI |
| 024 | 7 | a https://doi.org/10.1038/s41586-019-1231-22 DOI |
| 040 | a (SwePub)lu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a art2 swepub-publicationtype |
| 072 | 7 | a ref2 swepub-contenttype |
| 100 | 1 | a Flannick, Jasonu Harvard University,Broad Institute,Boston Children's Hospital4 aut |
| 245 | 1 0 | a Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls |
| 264 | c 2019-05-22 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2019 |
| 300 | a 6 s. | |
| 520 | a 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 653 | a Mus | |
| 700 | 1 | a Lyssenko, Valeriyau Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups,University of Bergen4 aut0 (Swepub:lu)endo-vly |
| 700 | 1 | a Groop, Leifu Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups4 aut0 (Swepub:lu)endo-lgr |
| 700 | 1 | a Nilsson, Peteru Lund 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 Groups4 aut0 (Swepub:lu)medf-pni |
| 700 | 1 | a Boehnke, Michaelu University of Michigan4 aut |
| 710 | 2 | a Harvard Universityb Broad Institute4 org |
| 710 | 2 | a DiscovEHR Collaboration |
| 773 | 0 | t Natured : Springer Science and Business Media LLCg 570:7759, s. 71-76q 570:7759<71-76x 0028-0836x 1476-4687 |
| 856 | 4 | u http://dx.doi.org/10.1038/s41586-019-1231-2x freey FULLTEXT |
| 856 | 4 | u https://www.nature.com/articles/s41586-019-1231-2.pdf |
| 856 | 4 8 | u https://lup.lub.lu.se/record/a103c3ae-8efd-49b4-b46e-00911b9ecff8 |
| 856 | 4 8 | u https://doi.org/10.1038/s41586-019-1231-2 |
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