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International Textbook of Diabetes Mellitus, 4th Ed., Excerpt #142: The Genetics of Type 2 Diabetes Part 4

High density mapping: GWAS do not inevitably lead to identification of a gene or genes in a given locus associated with disease.The most strongly associated SNPs are often only markers for the functional variant responsible for the observed genetic effect and most associated regions harbor several genes. Therefore, additional fine mapping of the loci in even larger sample sets is often necessary. To do this cost-efficiently a Cardio-Metabochip has been developed for metabolic/cardiovascular gene mapping. This custom-design Illumina Infinium genotyping chip contains ∼200,000 polymorphisms selected to cover association signals from a wide range of metabolic disorders (T2DM, lipid disorders, obesity, and cardiovascular disease), was designed to perform both deep replication of major disease signals and fine mapping of established loci. Meta-analysis of previous GWAS with an additional 22,669 T2DM cases and 58,119 controls genotyped using the Cardio-Metabochip has recently added another eight new loci associated with T2DM in the European population

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