Natural polymorphisms and alternative splice variants may also contribute to their pharmacological diversity.
As well as overall risk, certain gene variants may also correlate with particular presentations of IBD, Ananthakrishnan says.
Despite the evidence showing the contribution of these loci to AD pathogenesis, their genetic architecture has not been extensively investigated, leaving the possibility that low frequency and rare coding variants may also occur and contribute to the risk of disease.
Moreover, it appears likely that, in addition to BRCA1 associated protein 1, other yet unknown genetic variants may also influence the individual risk for development of MM, especially after exposure to asbestos and related mineral fibers.
One or more structural variants may also be contributing [57].
Improperly spliced transcript variants may also serve as tumor biomarkers [17].
Disease-associated variants may also be acting via effects on gene expression [47].
Genetic variants may also have different effects in different populations because of unmeasured (and perhaps unknown) environmental risk factors.
In addition, high EHH around the putative advantageous variants may also be observed, though the power of this test for such a selection scenario has not been investigated.
Moreover, there is increasing evidence that gene loci that harbor GWAS-discovered common variants may also harbor uncommon and rare variants and mutations that create related disease phenotypes [23], [24].
Minority drug-resistant HIV-1 variants may also act as latent reservoirs for therapeutic inefficacy, since they often persist in patients after treatment interruption or ARV drug regimen change [19], [20].
