An intronic PICALM polymorphism, rs588076, is associated with allelic expression of a PICALM isoform.

ABSTRACT:

Background

Although genome wide studies have associated single nucleotide polymorphisms (SNP)s near PICALM with Alzheimer's disease (AD), the mechanism underlying this association is unclear. PICALM is involved in clathrin-mediated endocytosis and modulates Aß clearance in vitro. Comparing allelic expression provides the means to detect cis-acting regulatory polymorphisms. Thus, we evaluated whether PICALM showed allele expression imbalance (AEI) and whether this imbalance was associated with the AD-associated polymorphism, rs3851179.

Results

We measured PICALM allelic expression in 42 human brain samples by using next-generation sequencing. Overall, PICALM demonstrated equal allelic expression with no detectable influence by rs3851179. A single sample demonstrated robust gl

SUBMITTER: Parikh I 

PROVIDER: S-EPMC4150683 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature