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

Posted: Fri May 02, 2014 1:23 pm
by Julie G
This may explain why some with the pathology don't go on to develop symptoms:
http://news.vanderbilt.edu/2014/04/stud ... esiliency/

Anybody brave enough to check? :?

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

Posted: Fri May 02, 2014 1:39 pm
by Gina99
I am not finding that SNP on snpedia or in the V3 or V4 chip.


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

Posted: Fri May 02, 2014 2:06 pm
by KatieS
Just checked, I'm rs4728029AG. Looks like you can only be A or G phenotype. Which genotype is protective against brain inflammation?

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

Posted: Fri May 02, 2014 3:35 pm
by Julie G
You BRAVE girls gave me courage to look. I'm AG, like you, Kit. No tears or cheers :roll: From what I can glean G is the ancestral allele. The article refers to a mutation. IF the authors are using that term correctly, the golden ticket would be: AA (Please correct me if I'm wrong!)

http://www.ncbi.nlm.nih.gov/projects/SN ... rs=4728029

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

Posted: Fri May 02, 2014 4:00 pm
by Gina99
Oh duh, I found it. The 3 of us are AG.

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

Posted: Fri May 02, 2014 4:48 pm
by bentkat
Bummer!
I'm GG :oops:

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

Posted: Sat May 03, 2014 5:21 am
by Gilgamesh
The Vanderbilt article -- is that the one you mean? -- says:
One genetic mutation (rs4728029) was found to relate to both ventricle dilation and cognition and is a marker of neuroinflammation.
It doesn't say how it relates, but if the mutation is a "marker " of inflammation, it's probably a marker in the "plus" direction (i.e., more inflammation). This would mean the ancestral allele, G, is the better allele.

But it would be good to get the article, or contact the researchers. These university pop summaries are sometimes wrong.

GB

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

Posted: Sat May 03, 2014 8:10 am
by Julie G
G, I think you are right. If anyone is able to get the paper & confirm for us- that would be amazing.

Bentkat, it may be time for a victory lap on the 'bent :D Cheers to outliving us all!

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

Posted: Sat May 03, 2014 9:15 am
by Doctor Lost
Hmmm, I'm also Heterozygous on this SNP and was born with congenital hydrocephalus...Maybe there's something to this one. There's also a body of work confusing normal pressure hydrocephalus and AD

http://www.ncbi.nlm.nih.gov/pubmed/?ter ... heimer%27s

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

Posted: Sat May 03, 2014 1:21 pm
by bentkat
Julie,

I might have a long life but I hope that I still have some of my brain cells when I'm old.