By Jose C. Florez
This publication provides the cutting-edge of variety 2 diabetes genetics, from the method of genetic discovery to its interpretation and medical software, and illustrates a version for different complicated human phenotypes.The first part explores genome-wide organization experiences, the extension of this system to much less available phenotypes and the coming of next-generation sequencing. one other part is going past genetics to demonstrate how different information resources might help interpret genetic facts, equivalent to leveraging inhabitants variety, the correlation of genetic institutions with physiological measurements, gene expression modulation, environmental components and our microbial commensals. The 3rd part describes advances in elucidating the complicated course from organization to operate utilizing in-depth sequencing and practical experiences of the mobile and molecular results of genes within the loci pointed out by means of genetics. the ultimate part hyperlinks our present figuring out with clinically appropriate questions, akin to prediction, interactions with medicines or meals, and affliction prevention, and paints a pragmatic yet hopeful imaginative and prescient of the longer term.
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Extra resources for The Genetics of Type 2 Diabetes and Related Traits: Biology, Physiology and Translation
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0 bined + or 2-h OGTT HapMap glucose ! 5 1000 ADA criteria array Genomes Phase 1 GWAS or meta-analysis discovery approach GWAS array GWA Illumina 610k SLC16A11/SLC16A13 GWA C14orf70 N controlsa Novel loci identified 20,829 MIR129-LEP, GPSM1, SLC16A13 3848 Hispanic (MexicanAmerican) Ethnicity/ origin East Asian SIGMA Type 2 Dia- Mexican betes Consortium (2014b), Nature Parra et al. (2011), Diabetologia Study Hara et al. 1 (continued) 20 R. Sladek and I. 1 mmol/l), AAO ! 25 years Abbreviations: AAO Age at onset, T1D Type 1 diabetes, GD Gestational diabetes, MODY Maturity-onset diabetes of the young, GWA M-A Genome-wide association meta-analysis a Sample sizes in discovery analyses b Association reached study-wise significance corrected for multiple testing Saxena et al.
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