Computational analysis of functional SNPs in Alzheimer's disease-associated endocytosis genes.

ABSTRACT:

Background

From genome wide association studies on Alzheimer's disease (AD), it has been shown that many single nucleotide polymorphisms (SNPs) of genes of different pathways affect the disease risk. One of the pathways is endocytosis, and variants in these genes may affect their functions in amyloid precursor protein (APP) trafficking, amyloid-beta (Aβ) production as well as its clearance in the brain. This study uses computational methods to predict the effect of novel SNPs, including untranslated region (UTR) variants, splice site variants, synonymous SNPs (sSNPs) and non-synonymous SNPs (nsSNPs) in three endocytosis genes associated with AD, namely PICALM, SYNJ1 and SH3KBP1.

Materials and methods

All the variants' information was retrieved from the E

SUBMITTER: Tey HJ 

PROVIDER: S-EPMC6776068 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature