With the availability of GWAs based DNA-Arrays, a number of more frequent variants affecting LDL-levels emerged [5], [6], [7], [35], [40].
Twenty-nine percent of variants 3 and 26% of variant 4 peptides were recognized, allowing the detection of responses in 9 and 11% more individuals, respectively (who had not recognized the consensus or more frequent variants).
Some rare OCT1 variants enhance transport activity, whereas other more frequent variants impair protein maturation, plasma membrane targeting or the function of this carrier, hence reducing intracellular active drug concentrations.
By employing both familial and association studies we have successfully identified rare and potentially private as well as more frequent variants in both novel and previously known candidate genes and loci.
However, the absence of an association with survival in more frequent variants, including CYP2D6*4, questions the validity of the reported association between CYP2D6 genotype and treatment response in breast cancer.
The shapes of the SFS are consistent with the validation results (shown previously), showing the expected selection-driven enrichment of low frequency SNPs and characteristic decrease in abundance among more frequent variants.
However, if in using these tools, we focus exclusively on single infrequent variants under the assumption that they will invariably exert their effects in splendid isolation, then there is a very real danger that we shall inadvertently exclude from consideration those more frequent variants with modest effects, blithely ignoring their potential for interaction with the rare variants.
People are influenced by norms, and hence the more frequent a variant is, the more likely it is to be adopted (Rozin 2010).
Here, we attempted to identify more frequent genetic variants affecting LDL-C levels and thereby to further study the relation between the inherited variability of serum cholesterol and CAD risk in the European population.
