. The -48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Abeta load in brain. J Med Genet. 2001 Jun;38(6):353-5. PubMed.


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  1. "Interesting paper showing an association between risk for AD and a polymorphism in the promoter of PS1. The risk genotype is also associated with increased Ab load in the brain. These observations are consistent with the hypothesis that increased PS1 expression leads to increased g-secretase activity and thus increased Ab levels."

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