The TCF7L2 gene is the locus with the strongest association with risk of type 2 diabetes (T2D) in different populations. The rs7903146 single-nucleotide polymorphism (SNP), located in intron 3 and the one with the strongest association to T2D risk, has been the most widely studied TCF7L2 variant. Current evidence suggests that rs7903146 may affect risk of T2D through its effects on enhancer activity3'4 resulting in higher TCF7L2 gene expression. The rs7903146 SNP has been found located inside islet-selective open chromatin sites using either formaldehyde-assisted isolation of regulatory elements coupled with high throughput sequencing (FAIRE-seq), or histone H3 lysine methylation modifications as marks of regulatory elements.
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