#but the 'how common is this' panel wasnt available when i got keps results so i'm glad to see there's more data coming in!
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kangals · 5 months ago
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oh i forgot to write up an update on the embark situation!
if you missed my posts last month (or didnt read them because they were certified walls of text): i got kep an embark test and in addition to the expected stuff, it also flagged him as having some genes related to copper storage disease - specifically that he had 1 gene for copper accumulation, and 2 genes that make accumulation less severe, meaning he inherited copper-related genes from both parents. when i did some reading into it,i couldnt find ANY studies or resources regarding copper disease in collies - it was almost entirely focused on labradors and dobermans, with an occasional hand-wavy comment of "sometimes seen in other breeds idk." because this test only got added by embark last month, i ended up doing a new test on stellina to check and see if she also had it.
basically my thinking was: A: does the presence of these genes mean that kep is actually at risk for copper storage disease, OR B: was this an incidental finding and the genes really only affect labs and dobes.
with stellina's test results, i think i'm pretty confident in guessing that the answer is B!
stellina's results also flagged as having one gene for copper accumulation - which, since i know that kep and stellina are pretty distantly related, indicates to me that it's much more likely that the genes are widespread in the greater collie gene pool as opposed to both of them just so happening to pick up a rare and harmful gene.
and most notably, now that's been a month and embark presumably has more data, they also had this new information listed:
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those are HIGH numbers - and is an even bigger indicator that the gene, for whatever reason, simply doesn't affect these breeds that much. great pyrs, for example, are primarily working, livestock guardian dogs - there's no way that 80% of these dogs are suffering from copper storage disease. and while frenchies and cavs are certainly poster children for "breed with lots of serious health problems", copper storage isn't one of them. given the extreme popularity of frenchies, if 90% of them had this disease, someone would have noticed.
(interestingly, last week when i looked at this instead of pyrs it had pembroke corgis listed in that spot at around the same numbers - i wonder how many other breeds have large percentages of this gene but embark is just only listing the top few. this is such a new test that i expect a lot of information to change)
so i'm guessing that copper storage genes are actually pretty common in dogs - especially breeds with known low genetic diversity, such as collies, cavs, and dobermans. but given that there's nothing noted in studies about breeds besides labradors, dobermans, and a few terrier breeds, it just might not affect the rest of them. similarly, i know stellina carries the gene for "saddle tan" coloration, as do a certain %age of collies - but collies don't come in saddle tan. it's suspected there's another gene needed to "'activate" the pattern that's missing from collies. i'd guess the same thing is happening here - lots of dogs have the gene, but the "activation" genetics are only in a few specific breeds.
i'm definitely still going to be keeping a close eye on it, the test only released in May so it's still very early and i imagine they're getting a ton of data from this - would love some research into if my thinking is correct. if you have a dog that's gotten an embark health test from may and onwards this year, i'd be interested to know what breed(s) your dog is and if they also carry these genes. but i think, overall, this indicates that it's more incidental than a real concern.
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