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APOE genotype and 23andme.com


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8 replies to this topic

#1 Skötkonung

  • Location:Västergötland, SE

Posted 05 April 2010 - 01:09 AM


I didn't see this anywhere in my results? Is there any way I can procure this information based on the data gathered by 23andme?

#2 Skötkonung Re: APOE genotype and 23andme.com

  • Location:Västergötland, SE

Posted 05 April 2010 - 01:53 AM

Okay, I found this thread on the APOE genotype:
https://www.23andme....ity/thread/225/

It seems that you can approximate your variant, however it is best to get another $500 test through another lab as 23andme doesn't provide APOE results.

I'm a little disappointed, APOE / APOB seem like very useful information. Even with a well organized diet, a bad APOE genotype could still end your life early.

#3 niner Re: APOE genotype and 23andme.com

  • Location:Philadelphia

Posted 05 April 2010 - 02:34 AM

It seems that you can approximate your variant, however it is best to get another $500 test through another lab as 23andme doesn't provide APOE results.

What the hell? I thought that 23and Me and its analogs provided all the interesting SNPs. I would expect to not get a Huntington's diagnosis, or similar things like that, but APOE would be good to know about. Maybe the conventional wisdom is that APOE is a slow-motion death sentence and there's nothing you can do about it? (btw, the thread you linked needs a login.)

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#4 Skötkonung Re: APOE genotype and 23andme.com

  • Location:Västergötland, SE

Posted 05 April 2010 - 03:19 AM

It seems that you can approximate your variant, however it is best to get another $500 test through another lab as 23andme doesn't provide APOE results.

What the hell? I thought that 23and Me and its analogs provided all the interesting SNPs. I would expect to not get a Huntington's diagnosis, or similar things like that, but APOE would be good to know about. Maybe the conventional wisdom is that APOE is a slow-motion death sentence and there's nothing you can do about it? (btw, the thread you linked needs a login.)

23andme basically said that accuracy is an issue with APOE results. There are only a few labs doing reliable APOE genotyping, and it is pretty expensive ($500 w/o insurance).

One user's results:
"Well, since 23and me seems mainly concerned about telling us stuff we already know (some of my favorites: hair and eye color, lactose intolerance, and especially earwax, wet or dry?) I had to go elsewhere for my APOE test and will no doubt have to do the same for MTHFR. If it helps anybody, I'm homozygous for APOE 3 with AA @rs4420638, CC @rs7412 and GG @rs2254958 (SNP are from 23andme). Unfortunately as others have pointed out, rs429358 comes up blank in 23andme's *browse raw data.*

My APOE test was done by Berkeley HeartLab. You don't have to go to Berkeley although it's actually located in Alameda. You can have your blood drawn at your doctor's office or any blood drawing station. The cost is around $350 as I recall and was mostly covered by (my) insurance. I also had additional tests for heart disease risk factors, so I don't know how the cost would break down. "

Another interesting excerpt:
"Adding to MR MEJ's post about rs4420638:

GG likely homozygous apoE4/apoE4 15 fold inc. risk Alzheimers
AG 3 fold inc risk Alzheimers
AA normal

SNPedia also lists rs429358 as associated with Alzheimers risk, but not on 23andme chip apparently. "



SNPedia says:
[PMID 17192785] The researchers found that on testing DNA samples from 1,086 well-characterized Alzheimer's disease cases, a single SNP (rs4420638) lying 14 kb distal to the ApoE locus has a powerful association with late-onset AD (corrected p value was 5.3 x 10 e-34). No other SNP showed as robust an association.

Risk alles, of course, are SNP (rs429358)C at the actual APOE site; and SNP (rs4420638)G with a very high association.

#5 Skötkonung Re: APOE genotype and 23andme.com

  • Location:Västergötland, SE

Posted 05 April 2010 - 03:24 AM

I'd be interested in seeing what people are getting for their results.

#6 Skötkonung Re: APOE genotype and 23andme.com

  • Location:Västergötland, SE

Posted 07 April 2010 - 04:20 AM

Also, and this is really interesting to me, in a study of pooled healthy normal individuals, C282Y (the HFE gene, my hemochromatosis mutation) were investigated for associations with the E4 variant.

Here is the study abstract:
Mutations in the class I-like major histocompatibility complex gene called HFE are associated with hereditary hemochromatosis (HHC), a disorder of excessive iron uptake. We screened DNA samples from patients with familial Alzheimer disease (FAD) (n = 26), adults with Down syndrome (DS) (n = 50), and older (n = 41) and younger (n = 52) healthy normal individuals, for two HHC point mutations-C282Y and H63D. Because the apolipoprotein E (ApoE) E4 allele is a risk factor for AD and possibly also for dementia of the AD type in DS, DNA samples were also ApoE genotyped. Chi-squared analyses were interpreted at the 0.05 level of significance without Bonferroni corrections. In the pooled healthy normal individuals, C282Y was negatively associated with ApoE E4, an effect also apparent in individuals with DS but not with FAD. Relative to older normals, ApoE E4 was overrepresented in both males and females with FAD, consistent with ApoE E4 being a risk factor for AD; HFE mutations were overrepresented in males and underrepresented in females with FAD. Strong gender effects on the distribution of HFE mutations were apparent in comparisons among ApoE E4 negative individuals in the FAD and healthy normal groups (P < 0.002). Our findings are consistent with the proposition that among ApoE E4 negative individuals HFE mutations are predisposing to FAD in males but are somewhat protective in females. Further, ApoE E4 effects in our FAD group are strongest in females lacking HFE mutations. Relative to younger normals there was a tendency for ApoE E4 and H63D to be overrepresented in males and underrepresented in females with DS. The possibility that HFE mutations are important new genetic risk factors for AD should be pursued further. [source]

Another study concluded that:
We suggest that the combination of TF C2 and HFE C282Y may lead to an excess of redox-active iron and the induction of oxidative stress in neurones, which is exacerbated in carriers of [i]APOE4. Since 4% of Northern Europeans carry the two iron-related variants and since iron overload is a treatable condition, these results merit replication. [source]

What do you make of these? It seems my status as a homozygote of C282Y gives me a slight statistical advantage towards not having E4. However, if I don't properly control my iron, I am predisposed to Alzheimer's disease - and excess iron exacerbates the effects of E4 if I have it. In other words, excess iron = bad.

Edited by Skotkonung, 07 April 2010 - 04:20 AM.


#7 prophets Re: APOE genotype and 23andme.com

  • Location:US

Posted 07 April 2010 - 04:27 AM

http://www.imminst.o...dly-t32512.html

#8 Skötkonung Re: APOE genotype and 23andme.com

  • Location:Västergötland, SE

Posted 07 April 2010 - 05:45 AM

http://www.imminst.o...dly-t32512.html


That might explain why people with hemochromatosis, such as myself, aren't very likely to make it as centenarian. And this study looks only at heterozygotes. I'm a homozygote. :(

Association of Mutations in the Hemochromatosis Gene With Shorter Life Expectancy
" Background To investigate whether the frequency of carriers of mutations in the HFE gene associated with hereditary hemochromatosis diminishes with age as an indication that HFE mutations are associated with increased mortality. It is of value in the debate concerning screening for hereditary hemochromatosis to determine the significance of heterozygosity. Methods Genotyping for mutations in exons 2 and 4 of the HFE gene using denaturing gradient gel electrophoresis in 1784 participants aged 45 to 100 years from 4 population-based studies: all 183 centenarians from the Danish Centenarian Study, 601 people aged 92 to 93 years from the Danish 1905 Cohort, 400 aged 70 to 94 years from the Longitudinal Study of Aging Danish Twins, and 600 aged 45 to 67 years from a study of middle-aged Danish twins. Results All participants (N=1784) were screened for mutations in exon 4, and a trend toward fewer heterozygotes for the C282Y mutation—the mutation most often associated with hereditary hemochromatosis—was found. This was significant for the whole population (P=.005) and for women (P=.004) but not for men (P=.26). A group of 599 participants was screened for mutations in exon 2, and there was no variation in the distribution of mutations in exon 2 in the different age groups. Conclusions In a high–carrier frequency population like Denmark, mutations in HFE show an age-related reduction in the frequency of heterozygotes for C282Y, which suggests that carrier status is associated with shorter life expectancy."

Longevity and carrying the C282Y mutation for haemochromatosis on the HFE gene: case control study of 492 French centenarians

"We found two homozygotes for the C282Y mutation among the centenarians and one among the controls; all were women. None had been treated by phlebotomy and none had been diagnosed with haemochromatosis. Distributions of the genotypes in the control and in the centenarian groups satisfied Hardy-Weinberg equilibrium, which is not in favour of a selection against either homozygotes or heterozygotes for the C282Y mutation among centenarians."

Edited by Skotkonung, 07 April 2010 - 05:48 AM.


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#9 jolly Re: APOE genotype and 23andme.com

  • Location:USA

Posted 31 July 2011 - 02:27 PM

As an update - I was looking through my 23andMe results today, and realized it does show APOE e4 status.

You can find this as part of the https://www.23andme....eimers/overview , or just check the rs7412 & rs429358 SNP’s directly.

-Jolly




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