Woo hoo- another SNP that may offer protection...

[MarcR]

Well, here's the abstract ...

http://www.alzheimersanddementia.com/ar ... 2/abstract

... and here's an earlier version of it from a 2013 conference:

http://www.ashg.org/2013meeting/abstrac ... 122845.htm

I still don't know which allele is protective, but I did come away with the impression that it's not a major factor:

The POT1 x Ptau interaction explained two percent of the variance in ventricular volume even when including APOE and the other covariates previously mentioned in the model.

I'm AA at rs4728029.

[Julie G]

Bentkat, cheers to that!

Merouleau, thanks for digging that up. I will write to the author on our behalf to clarify. Your second link refers to "T" as being implicated. That further confuses me. My rudimentary understanding of genetics pairs T with A, and C with G. In this case, 23 & Me reports A with G....and the authors refer to a "T"

I'll report back, but in the meantime feel free to shed some light on this, smart peeps.

[Julie G]

Hmmm, check this out: http://www.atdbio.com/content/15/Mutage ... DNA-repair

In reference to rs4728029, this may be a case of a true mutation where base pairs are mismatched.

[SpunkyPup]

abstract is here

http://www.ashg.org/2013meeting/abstrac ... 122845.htm

http://www.pubfacts.com/detail/24656848 ... generation.

can't find it on snipedia

http://www.pubfacts.com/author/Mary+Ellen+I+Koran

one can ask researchers? there is email address

don't see how with info around what is what

[Welcomeaboard]

GG

[Matisse]

Homozygous carriers of the A allele showed greater ventricular dilation over time, so the G allele appeared to confer resilience.

All the best,
Tim

MY E-MAIL to Timothy Hohman:

Genetic resilience to neurodegeneration in the presence of tau pathology. T. Hohman, M. Koran, T. Thornton-Wells Molecular Physiology and Biophysics, Center for Human Genetics Research, Vanderbilt University, Nashville, TN.

May I ask whether rs4728029 A or G confers the resilience in this study? Thank you.

[Julie G]

You rock, Matisse!

[LillyBritches]

Yetta Nother AG here. :\ Mom is GG; so is hubby.

So, Juls et al - does that mean, as heterozys, we still benefit from that "G" allele? You know, a lot of the time it's only a homozygous allele that either offers protection or not. I've noticed that we heteros sometimes luck out when we have at least one "good" allele and that our risk isn't impacted.

Hmmm...a thought...I wonder if double 4s have a greater chance of having an "A" ("T")? You know our e4/e4 impacts so many downstream genes...

So from Matisse's query (yes, THANKS Matisse!) to the researcher, it seems that AA is the only deleterious combination?

Oh, and THANKS YET AGAIN, DAD. Poor guy. Methinks he lost the genetic lotto, big time (having bought the farm at 52). Interestingly, I found out tonight that his mom (paternal grandmother) indeed lived to 97 and that his dad (paternal grandpa) lived to be 82. It must truly suck to outlive your children! My poor dad's telomeres must have been short as all get out.

Just noticed the lead paragraph in the Science Daily article. This:

Additionally, memory researchers have discovered a potential genetic variant in these asymptomatic individuals that may make brains more resilient against Alzheimer's.

is infuriating. Look at how it's structured. "Potential genetic variant" would mean the "A" allele! "A" is the variant, no? Well, it's the opposite, according to the researcher's response. "G" isn't the variant. Right? Sigh...

[LillyBritches]

Take your resveratrol, folks:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903454/

[SusanJ]

Thanks, LB. Added the study to the LPS and inflammation wiki so we don't lose track.