Could anyone put some light on SNPs in TFBS and SNPs in miRNA binding sites and their importance in gene regulation and their role in human diseases.
Note: kindly put references also.
Like all regions of the genome, most SNPs in TF or miRNA binding sites are either slightly deleterious or nearly neutral, with a small fraction of positively selected SNPs. Strongly deleterious or advantageous SNPs are not observed as frequently because the are lost or go to fixation rapidly.
Check out the paper by Chen and Rajewsky on "Natural selection on human microRNA binding sites inferred from SNP data" from 2006 to learn more about how to use shifts in the SNP allele frequency spectrum to detect purifying selection on (miRNA) binding sites.
You should look at the recent paper by Brest et al on IRGM and Crohn's disease. The SNP they investigated alters a microRNA binding site and augments the inflamed state of this disease.
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This is why BioStar is so good - I check my answer to make sure spelling and such are fine and I see a response that includes a paper relevant to our research. Thanks & +1!