The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

By B. Voight, H. Kang, Jun Ding, Cameron Palmer, C. Sidore, P. Chines, Noël P. Burtt, Christian Fuchsberger, Yanming Li, J. Erdmann and 39 more. 2012

551 citations recorded by the source corpus.

Genome-wide association studies have identified hundreds of loci for type 2 diabetes, coronary artery disease and myocardial infarction, as well as for related traits such as body mass index, glucose and insulin levels, lipid levels, and blood pressure. These studies also have pointed to thousands of loci with promising but not yet compelling association evidence. To establish association at additional loci and to characterize the genome-wide significant loci by fine-mapping, we designed the “Metabochip,” a custom genotyping array that assays nearly 200,000 SNP markers. Here, we describe the Metabochip and its component SNP sets, evaluate its performance in capturing variation across the allele-frequency spectrum, describe solutions to methodological challenges commonly encountered in its analysis, and evaluate its performance as a platform for genotype imputation. The metabochip achieves dramatic cost efficiencies compared to designing single-trait follow-up reagents, and provides the opportunity to compare results across a range of related traits. The metabochip and similar custom genotyping arrays offer a powerful and cost-effective approach to follow-up large-scale genotyping and sequencing studies and advance our understanding of the genetic basis of complex human diseases and traits.

Subfields: Genetics, Molecular Biology

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Citations in the corpus

Generalization and Dilution of Association Results from European GWAS in Populations of Non-European Ancestry: The PAGE Study (2013, background): “8 in an EA population [29,30], yielding a total of 1,093 tagged SNPs for the 51 index tagSNPs.”
Defining the role of common variation in the genomic and biological architecture of adult human height (2014, unknown): “9).”
Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics (2013, methodology): “r dierent scenarios, we used the imputed genotypes from two dierent datasets: Whitehall II study (WHII), a longitudinal prospective cohort study genotyped using the gene-centric Illumina Metabochip [6,7], and the expression dataset described herein. We randomly chose a causal SNP A among genotyped a”
Diabetes, Hypertension, and Cardiovascular Disease: Clinical Insights and Vascular Mechanisms (2017, result): “There are some benefits with respect to macrovascular complications, but this is dependent on the profile of individual drug classes and even appears to be different for agents within the same class.88 The role of BP lowering to improve prognosis in T2D has been established since the UK Prospective ”