Raw data help!

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slinkystrudels
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Raw data help!

Postby slinkystrudels » Fri May 07, 2021 3:13 pm

Hi - so my genetic testing (I’m 4/4)was done through a company called Circle DNA and Promethease etc won’t accept a pdf file of my raw data. It’s essentially a screenshot. Can anyone help decipher what it all means ?
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41years old from bonnie Scotland. 4/4 ....

Tincup
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Re: Raw data help!

Postby Tincup » Fri May 07, 2021 8:35 pm

slinkystrudels wrote:Can anyone help decipher what it all means ?


You could search SnPedia for those SnP's and see what it says.
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NF52
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Re: Raw data help!

Postby NF52 » Sat May 08, 2021 5:05 pm

slinkystrudels wrote:Hi - so my genetic testing (I’m 4/4)was done through a company called Circle DNA and Promethease etc won’t accept a pdf file of my raw data. It’s essentially a screenshot. Can anyone help decipher what it all means ?
Hi from another 4/4!

My first suggestion would be to contact Circle DNA and tell them exactly how unhelpful the information provided is to you! At first glance it looks like they are telling you that you have genes for Lewy Body Dementia and Frontal Temporal Dementia- two completely different disorders which do not have a strong genetic link to ApoE 4. Lewy Body Dementia (referred to as LBD or sometimes DLB) is named for the Lewy bodies seen on imaging--completely different than the amyloid plaques and tau tangles seen in Alzheimer's disease pathology. Doesn't mean people with ApoE 4 can't get LBD, just like people with ApoE 3 can get AD or LBD.

Frontal Temporal Dementia (FTD) is a much less common disorder with links to a-synuclein, a completely different protein than amyloid and tau and something that in many, but not all cases, occurs in families with known history of multiple affected individuals.

There's no reason that someone with ApoE 4/4 should expect a second set of unlucky genes for LBD or FTD.

One of the SNPS in the box at the bottom of the screen shot shows you have two copies of the T allele of RS9536314. So do MOST people, since it's the most common allele and confers no added risk of anything, according to Snpedia:
https://www.snpedia.com/index.php/Rs9536314(T;T)

The same is true for your rs9527025 (G/G) allele, which is the most common and no risk associated with it here: https://www.snpedia.com/index.php/Rs9527025

For Rs 6465122, it is a stretch to say it's implicated in Parkinson's and Lewy body, since only one study in 2015 seemed to find that association, and only with the T allele. You have C/T, meaning you have only one copy of something that might increase the risk of late-onset Parkinson's or LBD. Since this doesn't show at all in SNPedia and has not been reported as replicated in other studies, this link at a site called 3Point2 lists this allele as not a risk factor: https://www.ebi.ac.uk/gwas/studies/GCST002778/
I could find no reference to the other allele listed, which suggests it is not well-studied.

If you are in the mood to splurge on yourself, 23&me is having a sale of their Ancestry and Health test for $149. Or you could just say, " "Hey, I don't need anything more for now. I can write my own future self a letter about how I'm taking care of her today!"
4/4 and still an optimist!

slinkystrudels
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Re: Raw data help!

Postby slinkystrudels » Sun May 09, 2021 3:20 am

NF52 - Thankyou SO much , you have been extremely helpful ! And yes, I wasn’t sure why they had listed FTD & LBD but was worried I was high risk for those too. I think I will get the testing redone on 23&me . Thankyou x
41years old from bonnie Scotland. 4/4 ....

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floramaria
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Re: Raw data help!

Postby floramaria » Mon May 10, 2021 5:12 pm

slinkystrudels wrote:NF52 - Thankyou SO much , you have been extremely helpful ! And yes, I wasn’t sure why they had listed FTD & LBD but was worried I was high risk for those too. I think I will get the testing redone on 23&me . Thankyou x

Hi slinkystrudels, if you haven’t already purchased the 23&Me Ancestry and Health, you might consider saving money by purchasing the less expensive Ancestry and Traits kit from 23&Me rather than Ancestry and Health. When you get your 23&Me results, running the raw data from 23&Me through Promethease.com will give you a whole lot of genetic information for $12. I prefer that to 23&Me’s Health panel.
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