Comprehensive analysis of PM20D1 QTL in Alzheimer's disease.

ABSTRACT:

Background

Alzheimer's disease (AD) is a complex disorder caused by a combination of genetic and non-genetic risk factors. In addition, an increasing evidence suggests that epigenetic mechanisms also accompany AD. Genetic and epigenetic factors are not independent, but multiple loci show genetic-epigenetic interactions, the so-called quantitative trait loci (QTLs). Recently, we identified the first QTL association with AD, namely Peptidase M20 Domain Containing 1 (PM20D1). We observed that PM20D1 DNA methylation, RNA expression, and genetic background are correlated and, in turn, associated with AD. We provided mechanistic insights for these correlations and had shown that by genetically increasing and decreasing PM20D1 levels, AD-related pathologies were decreased and accelerated,

SUBMITTER: Sanchez-Mut JV 

PROVIDER: S-EPMC6998837 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature