rs1129844 This story is so big... it deserves its own thread!

[LillyBritches]

On 23andme my RS1129844 = AG
Starfish 4/4

I'm AG on rs1129844 too, Star.

[ktg000]

You and starfish have got the two big good ones haven't you Lilly?!

[Rob]

Proxy rs17735961 results for my family

Me (e4/e4): CC
Mom (e4/e4): CC
Dad (e4/e4): CC
Maternal Grandmother (e4/e3): AC (figures, she's an active 82 with no sign of dementia)

[J11]

It would be great if we could find an AA at rs1129844 with at least one 4. The article found that such a person should have
a prolonged delay in onset (6-7 years).
Supplementary Table 5
http://www.nature.com/mp/journal/vaop/n ... 131s1.html

Perhaps we could run our own forum confirmation, as the article had truly small numbers for the AG genotype (about 50) and the AA (about 5). Even GG could help us narrow down the age of onset for that genotype. The only tricky part would be determining what operational definition they used for age of onset.

I really do not understand why 23andme does not provide their customers with complete imputed results. In GWAS studies they can start with a gene chip array and impute up to millions of SNPs. In this instance there is a perfect proxy for rs1129844. It makes no sense why 23andme does not do the imputation. It would be such an easy marketing win. They could say we will genotype 1 million of your SNPs and give you 10 million more imputed ones! It would cost virtually nothing to do this. Why not?

[SusanJ]

GG and 3/4 here.

[J11]

In terms of determining age of onset, perhaps we should find some sort of cognitive testing program/url that members could use to assess their cognitive functioning (Perhaps a site similar to luminosity). I realize that many on this forum would find this to be a sensitive and psychologically difficult topic. For these members, they could refrain from using such testing. For others, we might be able to pick up on pre-clinical or clinical stage dementia and we could then use this information to help, for example with the rs1129844 age of onset question.

Anyone interested?

[LillyBritches]

You and starfish have got the two big good ones haven't you Lilly?!

LOL! Crumbs, dear ktg. Crumbs. I'm the one foraging greedily for them. I think Teezer is A/G as well.

Speaking of Teezer, I never did show him "the love." So, Teezer, if you ever see this: here's the love. Seriously. Thanks very much! Speaking of all things IT and stuff, could you get us some of them cute stickers like they have on Facebook? Like that big fat kitty Pusheen? OMG that cat is so adorable. You should see the sticker where she/he/it is riding a scooter.

What? You thought my compliment was sans price?

[J11]

They are getting better at working through the background genetics of AD.
Here is another article narrowing down the genetics of age of onset of the Colombia early onset cohort.
The GPR variant was found in our exome scan and in our imputation file.

http://www.nature.com/mp/journal/vaop/n ... html#tbl1a

[BerniF]

I have the newer version of 23 & me so no rs1129844 ..I have looked up the Proxy rs17735961 and I am AA, I think from what I have read that means I am AA for rs1129844?

My mum died from Alzheimer's aged 65 so quite early and she must have had one 'A' so like every other genetic link 'discovered', good or bad, there are obviously other genes / epigenetics at play. Still, I'll take a positive any day

Thanks for the continuing hard work you all put in to bring us this information.

[J11]

That is amazing news BerniF!

One A seems to not help that much, though TWO could be quite helpful.
Knowing your mother's genotype would also be helpful; perhaps you could genotype any siblings or other family members to try and
determine this. It would also be interesting to know whether your mother was epsilon 4,4.

This really highlights for me the approaching power of people being able to have knowledge about family risk and protective alleles in order to make realistic plans for their future caregiving needs. There must have been a fairly large Alzheimer risk variant to cause such an early age of onset. I would want to know whether I managed to avoid inheriting it. $100 would be a small price to pay to have rs1129844 genotyped to make sure the imputation was correct.

By the way, when I see you around I think you owe me three extra large strawberry milkshakes!