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Enrichment of risk SNPs in regulatory regions implicate diverse tissues in Parkinson's disease etiology.

Abstract：

:Recent genome-wide association studies (GWAS) of Parkinson's disease (PD) revealed at least 26 risk loci, with associated single nucleotide polymorphisms (SNPs) located in non-coding DNA having unknown functions in risk. In order to explore in which cell types these SNPs (and their correlated surrogates at r(2) ≥ 0.8) could alter cellular function, we assessed their location overlap with histone modification regions that indicate transcription regulation in 77 diverse cell types. We found statistically significant enrichment of risk SNPs at 12 loci in active enhancers or promoters. We investigated 4 risk loci in depth that were most significantly enriched (-logeP > 14) and contained 8 putative enhancers in the different cell types. These enriched loci, along with eQTL associations, were unexpectedly present in non-neuronal cell types. These included lymphocytes, mesendoderm, liver- and fat-cells, indicating that cell types outside the brain are involved in the genetic predisposition to PD. Annotating regulatory risk regions within specific cell types may unravel new putative risk mechanisms and molecular pathways that contribute to PD development.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Coetzee SG,Pierce S,Brundin P,Brundin L,Hazelett DJ,Coetzee GA

doi

10.1038/srep30509

subject

Has Abstract

pub_date

2016-07-27 00:00:00

pages

30509

issn

2045-2322

pii

srep30509

journal_volume

6

pub_type

杂志文章

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