This procedure potentially concentrates genetic associations, in that variants with weak associations to multiple original phenotypes often exhibit strong association to one ET. Although the final CAPE-derived model will be recast in terms of the original phenotypes, this provides enhanced detection of candidate loci for interaction analysis.
In the CR1 locus, we find something unique among the AD susceptibility loci: evidence for interaction between the AD susceptibility allele and the level of methylation of certain CpGs (Table 4).
Hence, we considered as candidate locus for the interaction scan any locus with a LOD score larger than the smaller maximum genome-wide LOD score obtained in the 1000 random permutations.
While arguing for a potential retinal locus for these interactions, these authors also highlighted previous studies showing colour-luminance interactions at the level of single V1 cells [47] [49].
Our framework assumes only modest benefits per regulatory locus for adaptive interactions and identical deleterious costs per locus for maladaptive binding events.
Anchoring of PER2 at the edge of this CRY pocket not only reinforces its function as a previously unrecognized locus for protein protein interactions, but also suggests a possible role of PERs in modulating the repressor functions of CRYs.
To increase our initial sets of loci for the interaction scan and thereby increase our sensitivity in detecting interactions, the LOD score cutoff was lowered.
Consistent with our previous analyses, 6 7 we primarily applied the approach using a genetic risk score based on 32 well established BMI variants rather than a single locus to test for interaction.
Our study also extends the genetic loci evaluated for interactions with a subset of established breast cancer risk factors to include 17q23-rs6504950 and 3p24-rs4973768 [ 1] and ESR1-rs3020314 [ 7], which were not considered by Travis et al. [ 19].
Among a set of disease loci, they will look for pairs, triples, etc. of genes at different loci for which interaction has been described.
