Although these relatively common (1 5% frequency) variants were computationally predicted to be functionally benign (22), our experimental data provide molecular evidence that they could have functional impact in cellular signaling regulation as well.
The balance impairment may have functional impact and it might be addressed with proper clinical interventions.
Because pertussis vaccines may modulate the balance between Th1 and Th2 immunity [22], we further screened the biomedical literature until October 2005 for SNPs within the candidate genes known to have functional impact on, or to be associated with Th2 diseases, notably asthma and atopy.
We then determined whether the two SNPs in regulatory regions, rs11636687 and rs28668016, might have functional impact.
Several variations leading to AASs in well-known driver genes do not have functional impact, for example in TP53 [ 6].
However, the two SNVs were far apart from one another and not predicted to have functional impact.
Whereas changes in cytoskeleton-associated proteins likely reflect altered cell morphology, changes in chaperoning and housekeeping proteins may have functional impact on cellular stress response in peritoneal dialysis.
After performing with probable different nucleotide at an SNP position if different sequences for each UTR SNP are found to have varying functional patterns, this UTR SNP is expected to have functional impact.
However, IL2RA does have Treg upregulated epigenetic elements and these are in LD with disease-associated polymorphisms that have been shown to have functional impact on regulatory T cell phenotype (see Garg et al., 2012).
