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DC Field | Value | Language |
---|---|---|
dc.coverage.spatial | nacional | |
dc.creator | Preuss, Michael | |
dc.date.accessioned | 2022-02-16T04:21:24Z | - |
dc.date.available | 2022-02-16T04:21:24Z | - |
dc.date.issued | 2019 | |
dc.identifier.uri | sicabi.insp.mx:2019-None | |
dc.identifier.uri | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6699738/pdf/collins-1536336.pdf | |
dc.identifier.uri | https://www.doi.org/10.1038/s41586-019-1231-2 | |
dc.identifier.uri | http://repositorio.insp.mx:8080/jspui/handle/20.500.12096/7826 | - |
dc.description.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 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. | |
dc.format | ||
dc.language | spa | |
dc.publisher | ESPM INSP | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.rights | http://creativecommons.org/licenses/by-nc-nd/4.0 | |
dc.subject | AnimalsCase-Control StudiesDecision Support TechniquesDiabetes Mellitus, Type 2 genetics,Exome genetics,FemaleGene FrequencyGenome-Wide Association StudyHumansMaleMiceMice, KnockoutWhole Exome Sequencing,SD | |
dc.title | Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls | |
dc.type | info:eu-repo/semantics/article | |
dc.subject.cti | info:eu-repo/classification/cti/3 | |
dc.creator.orcid | orcid/0000-0001-5266-8465;Preuss, Michael | |
Appears in Collections: | Artículos |
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