17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson's disease are associated with LRRC37A/2 expression in astrocytes.

ABSTRACT:

Background

Parkinson's disease (PD) is genetically associated with the H1 haplotype of the MAPT 17q.21.31 locus, although the causal gene and variants underlying this association have not been identified.

Methods

To better understand the genetic contribution of this region to PD and to identify novel mechanisms conferring risk for the disease, we fine-mapped the 17q21.31 locus by constructing discrete haplotype blocks from genetic data. We used digital PCR to assess copy number variation associated with PD-associated blocks, and used human brain postmortem RNA-seq data to identify candidate genes that were then further investigated using in vitro models and human brain tissue.

Results

We identified three novel H1 sub-haplotype blocks across the 17q21.31 locus associat

SUBMITTER: Bowles KR 

PROVIDER: S-EPMC9284779 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature