New member of the APOE4 FAMILY

[Tashabunnz]

Hi everyone,
I just received my results from my 23andMe test. I was somewhat surprised to find I have 2 copies of the late onset Alzheimer Gene AOEP4. I am only 38 years old so my parents are in their early 60s and so far have no signs of this disease. My maternal grandmother has passed away from Alzheimer's and my paternal grandmother is currently in the late stages.
Wanting to find out more I went ahead and did an advanced analysis through Prometheaus. I am completely confused with all these genetic results so it was very hard to understand the outcome. But under my analysis of the AOEP4, it said that I might possibly have a false positive result due to the level of my Gene(?)
It recommends doing a professional genetic test to verify the results. Has anyone else had similar results and if so what would you recommend to me?
It would be wonderful if this was all false but because of my family history I feel like I need to get to the bottom of this

The only reason I would want to find out is not to define my future but to give me the opportunity to contribute to the future research of this disease.

I would love your advice ?

Thanks


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[JML]

Hi Tashabunnz and welcome to the ApoE4 family.

I am sorry to hear about your grandmothers, and glad that your parents show no signs of AD. It sounds like you have a very pragmatic attitude toward finding out more about your genetics. I'm afraid that I cannot help you with your question about possibly having a false positive because of the level of your gene. I have not heard of that but maybe someone on the forum will know more about this and be able to help. You certainly want to determine your status and know for sure, so it is good that you are investigating further.

You are very young and have time on your side! Take that time to learn more. The Primer and the Wiki on this site have some great basic information. And if you need any help navigating the site, you can check out our resource here.

You are wise to know that your status will not define your future. Good luck to you in your investigation, and feel free to ask any questions!

[Lucy5]

Hello Tashabunnz and welcome to our community.

I'm so sorry to hear about your grandparents' battle with Alzheimer's and can certainly understand your desire to confirm the accuracy of your ApoE4 result. I learned my E4 status from a routine physical and followed up afterwords with both 23andMe and Promethease. All were consistent in my case. I can't speak to your Promethease finding, but I believe you can reach out out to them and ask for clarification via the email address on their site. Also, I'm sure any other members with Promethease results similar to yours will chime in soon. You always have the option to get retested using an online testing site such as Walk-In Labs or, of course, by going through your personal physician. Just a quick note of caution here -- if you do choose to retest and go through your personal physician you may want to discuss excluding an ApoE4 result (should you have one) from your permanent medical record. We have forum topics discussing this in detail should you be interested (use our search function - the magnifying glass along the top of this page - for "medical/health records").

I know from personal experience that an E4 result (or even the possibility of one) can be very stressful. So, I'd like to take a moment here to point out that at just 38 years old you have many years before you need to worry about Alzheimer's. Keep in mind that E4 is only a risk factor for late onset Alzheimer's disease (LOAD) which is defined as 65 or older, but more likely at least a decade beyond that. Separately, there is so much research focusing on delaying/preventing/curing this disease that many are hopeful those in your age group will have every reason to be optimistic.

In this community, we also strongly believe that certain lifestyle strategies can also have a significant impact on our ultimate risk of LOAD. If you haven't had an opportunity as yet, I think you'll find our site Primer written by Stavia, a practicing physician and also 4/4, very insightful and helpful. Our Wiki is another source of information. Additionally, our How-To-Guide may help you navigate our site more easily.

Please feel free to update the group at any point on how you're doing and what you've learned. We're all here to support one another!
all the best..Lucy

[NF52]

I am completely confused with all these genetic results so it was very hard to understand the outcome. But under my analysis of the AOEP4, it said that I might possibly have a false positive result due to the level of my Gene(?)
It recommends doing a professional genetic test to verify the results. Has anyone else had similar results and if so what would you recommend to me?

Welcome, Tashabunnz,

Wouldn't it be wonderful if these genetic reports actually spelled out exactly what our results and risks were?! Believe me, you're not the only person who has wondered about "false positives" on ApoE 4 testing. Here's a link to a forum thread in June referencing that some studies suggest that only about 13-16% of people with European ancestry have one or two copies of ApoE 4, among 23&me customers, the incidence of ApoE is 26%. Re: APOE mismatch Ancestry vs 23andMe

I'm guessing that what you saw on your Promethease report is the following statement, which was also on my ApoE 4/4 results:

Possible false positive: This variant is rare in the general population and it may be a miscall. If it is indeed a miscall, this variant's frequency based on its genotyping by 23andMe would be too high compared to what is expected in scientific literature, causing a false positive. If you are concerned about this variant or have a family history of a condition associated with this variant, we strongly recommend taking a clinically validated DNA test to verify it and/or consulting with a genetic counselor. You are welcome to use our Find a genetic counselor referral webpage.

If I'm "translating" this correctly, Promethease is simply noting that overall 23&me has more ApoE 4 results than would be expected, so it's theoretically possible that your result is a "false positive". In my case, I've had several more genetic tests, through Gene Match and as part of a clinical study, and they've all confirmed the results. If you want to get a second opinion, you could use one of the online companies such as Life Extension, but it might be money that you would get more enjoyment out of spending on an experience you'll remember. It's not that the information might not be useful, but it's somewhat like "universal precautions" for blood-borne pathogens: everybody should practice good habits, because you have no idea if you are being exposed to blood-borne pathogens if you don't!

My own three adult children are only slightly younger than you, and only one probably knows of her ApoE 3/4 risk. (They all know that I'm in a study for people at risk of Alzheimer's and work on a Alzheimer's-related forum, and like you have seen grandmothers who had dementia. But they have the choice not to get tested.) Yet they all eat healthy foods, ranging from more paleo to vegetarian. They all travel, seek out challenges and laugh often. My personal opinion is that those skills are more important right now to building their cognitive reserve, mental flexibility and social connections than the uncertain nature of what exactly to do about their ApoE 4 status.

I applaud your desire to aid in research, whether as a participant or future researcher on yourself, or others. You may want to just poke around, check out the Welcome page and this thread on Thoughts on Disclosure, iin case you're thinking of telling your parents about your test results, which would indicate that they each have one copy of ApoE 4.

Finally: Don't believe everything you read in articles about your "relative risk" being 9-12x the "norm". I'm 66, only slightly older than your parents, and have two copies of ApoE 4, and yet my risk of developing either mild cognitive impairment or dementia by the age of 85 is probably about 30-55% according to a well-researched meta-analysis. Many researchers already note a downturn in the rate and age of onset of Alzheimer's and suspect that a combination of improved health, diet, exercise and education are helping to avoid or delay Alzheimer's. Many researchers in the field strongly believe that a better understanding of the multiple pathways to dementia will lead to a change similar to what happened with HIV 25 years ago: that people will eventually avoid dementia almost entirely, due to better risk management strategies.

Be well, my young (possibly) 4/4 friend, and let us know of how we can help your research on a path you didn't expect to find yourself exploring!

[Tashabunnz]

I am so happy I found all of you. I have been a mess the past few days and your words have had a huge impact on me! I will continue to read all the incredible resources on this forum and I am sure you will continue to receive my questions:)
I have not yet told any family members, especially my parents so i appreciate the link related to this matter.
Again thank you all for your words of encouragement, I am so amazed at how compassionate you all are! What an great community to be apart of!


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