The mechanism behind the reported associations is not yet understood, although several lines of evidence implicate variation in gene expression [ 25, 26].
Both classical [ 13, 14] and recent [ 15- 17] and others reviewed in [ 18] works implicate variation in gene expression among members of a population, controlled by regulatory as opposed to coding sequence, as a principal source of such variation.
Epidemiological studies implicate variation among fucose-containing glycoconjugates in human susceptibility to cholera (Barua and Paguio, 1977; Swerdlow et al., 1994; Harris et al., 2005; Holmner et al., 2010).
Examination of read depth in these areas suggested that coverage was relatively low compared to the mean for the whole exon, implicating variation in read depth as a potential source of discordant or false positive calls.
For example, it would have been desirable to have genotyped nsSNPs mapping to DNMT1 and DNMT3b, given previously published data implicating variation in these genes in development and prognosis of lung cancer (Kassis et al, 2006; Kim et al, 2006; Wang et al, 2006).
First and foremost, a substantial body of genetic evidence implicates variations in and around the Ide gene with the incidence and onset of AD [15] [18], thus strongly supporting a key role for this protease in disease-relevant functions.
The human salivary amylase genes display extensive copy number variation (CNV), and recent work has implicated this variation in adaptation to starch-rich diets, and in association with body mass index.
This analysis implicated allelic variation within pantetheinase genes (Vnn1 and Vnn3), which we propose impaired the biosynthesis of cysteamine, could affect susceptibility to HIT.
We used pharmacometabolomics to define pathways implicated in variation of response to treatment.
