Rare coding SNP in DZIP1 gene associated with late-onset sporadic Parkinson's disease

TL;DR

This study identifies a rare coding SNP in DZIP1 gene linked to increased risk of late-onset sporadic Parkinson's disease, using a novel mathematical approach to analyze GWAS data.

Contribution

First application of a hypothesis-rich mathematical theory to GWAS data revealing a new genetic association with Parkinson's disease.

Findings

Rare SNP in DZIP1 gene associated with Parkinson's disease

Supports stem-cell aging theory of Parkinson's disease

Demonstrates utility of mathematical models in genetic studies

Abstract

We present the first application of the hypothesis-rich mathematical theory to genome-wide association data. The Hamza et al. late-onset sporadic Parkinson's disease genome-wide association study dataset was analyzed. We found a rare, coding, non-synonymous SNP variant in the gene DZIP1 that confers increased susceptibility to Parkinson's disease. The association of DZIP1 with Parkinson's disease is consistent with a Parkinson's disease stem-cell ageing theory.