Recently, genome-wide association studies (GWAS) have led to the discovery of hundreds of susceptibility loci
that are associated with complex metabolic diseases, such as type 2 diabetes and hyperthyroidism. The majority of the
susceptibility loci are common across different races or populations; while some of them show ethnicity-specific distribution.
Though the abundant novel susceptibility loci identified by GWAS have provided insight into biology through the
discovery of new genes or pathways that were previously not known, most of them are in introns and the associated variants
cumulatively explain only a small fraction of total heritability. Here we reviewed the genetic studies on the metabolic
disorders, mainly type 2 diabetes and hyperthyroidism, including candidate genes-based findings and more recently the
GWAS discovery; we also included the clinical relevance of these novel loci and the gene-environmental interactions. Finally,
we discussed the future direction about the genetic study on the exploring of the pathogenesis of the metabolic diseases.
Keywords: Genome wide association study, Gene-environmental interaction, Hyperthyroidism, Risk prediction, Type 2 diabetes
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