Genetics: Chromosome 15, CCPG1, UNC13C and more

[ScoutB]

The lead variant at this locus is 15:54866724:A:G (rs7165327) with a p-value of 7.62E-09. DecodeME labelled CCPG1 as a Tier 2 gene. The nearest protein coding genes are UNC13C (at 234,980 bp), and then RSL24D1 (at 314,073 bp).

Though rs7165327 was a significant DecodeME hit, none of the nearest genes were identified as Tier 1 genes due to a lack of eQTL data. (See this post by ME/CFS Science Blog about why a lack of eQTL data may not be as much a point against a gene as initially thought.)


(Source: LocusZoom)

[ To do: add gene card info and such ]

 

[ScoutB]

Made this thread partly just to note a minor connection:

Apparently CCPG1 UNC13C was associated in one GWAS with a higher level of a protein called protogenin in blood, and apparently protogenin is a member of the same family as DCC (Described here as "a subgroup of the immunoglobulin superfamily with roles in the migration and guidance of axon growth during development of the vertebrate nervous system") -- I gather it's structurally and mechanistically similar to DCC.

Quite a lot of jumps happening here, but a bit interesting we have signals pointing at the same DCC family of proteins coming from different chromosomes.

 

[forestglip]

When ME/CFS Science Blog ran the FLAMES algorithm on DecodeME data, UNC13C was the gene that was picked out as most likely to be the causal gene here.

 

[ScoutB]

Well that's great news because I meant to write UNC13C not CCPG1 in the post above, hah