Proteome-wide analysis of disease-associated SNPs that show allele-specific transcription factor binding.

ABSTRACT: A causative role for single nucleotide polymorphisms (SNPs) in many genetic disorders has become evident through numerous genome-wide association studies. However, identification of these common causal variants and the molecular mechanisms underlying these associations remains a major challenge. Differential transcription factor binding at a SNP resulting in altered gene expression is one possible mechanism. Here we apply PWAS ("proteome-wide analysis of SNPs"), a methodology based on quantitative mass spectrometry that enables rapid screening of SNPs for differential transcription factor binding, to 12 SNPs that are highly associated with type 1 diabetes at the IL2RA locus, encoding the interleukin-2 receptor CD25. We report differential, allele-specific binding of the transcription facto

SUBMITTER: Butter F 

PROVIDER: S-EPMC3459973 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature