期刊
NATURE COMMUNICATIONS
卷 9, 期 -, 页码 -出版社
NATURE PORTFOLIO
DOI: 10.1038/s41467-017-02380-9
关键词
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资金
- Severo Ochoa Program - Spanish Government [SEV-2011-00067]
- EFSD/Lilly research fellowship
- Instituto Carlos III
- Agency for Management of University and Research Grants (AGAUR)
- FI-DGR from Agencia de Gestio d'Ajuts Universitaris i de Recerca (AGAUR, Generalitat de Catalunya)
- Wellcome Trust [076113, WT091310, WT101033]
- European Union's Horizon research and innovation program [667191]
- Obra Social Fundacion la Caixa fellowship under the Severo Ochoa program
- National Institute for Health Research (NIHR) Imperial Biomedical Research Centre
- Ministerio de Economia y Competitividad [BFU2014-54284-R]
- European Union's Horizon research and innovation program under the Marie Sklodowska-Curie grant [658145]
- Novo Nordisk Foundation
- Lundbeck Foundation [R16-2007-1691, R190-2014-3904] Funding Source: researchfish
- Medical Research Council [MR/L02036X/1, MC_PC_13046, MC_UU_12015/1, MC_PC_13048] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0512-10135, NF-SI-0617-10149] Funding Source: researchfish
- NNF Center for Basic Metabolic Research [Hansen Group, Pers Group, Grarup Group, Pedersen Group] Funding Source: researchfish
- Novo Nordisk Fonden [NNF16OC0021496] Funding Source: researchfish
- Steno Diabetes Center Copenhagen (SDCC) [SDCC 3. B Epidemiology] Funding Source: researchfish
- Wellcome Trust [101033/C/13/Z] Funding Source: researchfish
- Marie Curie Actions (MSCA) [658145] Funding Source: Marie Curie Actions (MSCA)
- Wellcome Trust [101033/C/13/Z] Funding Source: Wellcome Trust
- MRC [MR/L02036X/1, MC_UU_12015/1] Funding Source: UKRI
The reanalysis of existing GWAS data represents a powerful and cost-effective opportunity to gain insights into the genetics of complex diseases. By reanalyzing publicly available type 2 diabetes (T2D) genome-wide association studies (GWAS) data for 70,127 subjects, we identify seven novel associated regions, five driven by common variants (LYPLAL1, NEUROG3, CAMKK2, ABO, and GIP genes), one by a low-frequency (EHMT2), and one driven by a rare variant in chromosome Xq23, rs146662057, associated with a twofold increased risk for T2D in males. rs146662057 is located within an active enhancer associated with the expression of Angiotensin II Receptor type 2 gene (AGTR2), a modulator of insulin sensitivity, and exhibits allelic specific activity in muscle cells. Beyond providing insights into the genetics and pathophysiology of T2D, these results also underscore the value of reanalyzing publicly available data using novel genetic resources and analytical approaches.
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