paperKB
coga / coga-kb
Help
Sign in

Chunk #15 — RESULTS — Novel associations with potential disease alleles

Source
Geographical genomics of human leukocyte gene expression variation in southern Morocco.
Embedded
yes

Text

Another trans-association of interest involves rs11987927 in MYOM2 at 8p23 with ZNF71 at 19q13, but also with its own MYOM2 transcript. Logic suggests that the cis-association likely affects the abundance of the MYOM2 myomesin protein, which in turn regulates ZNF71, but the trans association is actually significantly stronger and conditional dependence analysis29,30 points in the opposite direction, namely that the MYOM2 regulatory site influences ZNF71, which then feeds back on the MYOM2 transcript (Supplementary Fig. 10 online). This example may be a cautionary tale concerning the interpretation of conditional dependence results. It is worth mentioning that four of the seven strongest trans associations involve regulation by loci that include genes that encode structural proteins, the others being the LAMA5 laminin (20q13) with OSBPL2, and the PLEKHM1 plekstrin homology domain protein (17q21) with MAPK8IP1.