epistasis
Hemani G, Shakhbazov K, Westra H-J, Esko T, Henders AK, McRae AF, Yang J, Gibson G, Martin NG, Metspalu A, Franke L, Montgomery GW, Visscher PM & Powell JE 2014 Detection and replication of epistasis influencing transcription in humans. Nature 508:249-253.
- epistasis is the phenomenon whereby one polymorphism's effect on a trait depends on other polymorphisms present in the genome
- few examples exist for epistasis among natural polymorphisms in human traits
- it has previously been too technically challenging to detect owing to statistical and computational issues
- we found 501 significant pairwise interactions between common SNPs influencing the expression of 238 genes
- forty-four of the genetic interactions are located within 5 megabases of regions of known physical chromosome interactions
- this study presents the first evidence, to our knowledge, for many instances of segregating common polymorphisms interacting to influence human traits
