MAPT haplotype diversity in multiple system atrophy.

ABSTRACT:

Introduction

Multiple system atrophy (MSA) is a rare progressive neurodegenerative disorder. MSA was originally considered exclusively sporadic but reports of association with genes such as SNCA, COQ2 and LRRK2 have demonstrated that there is a genetic contribution to the disease. MAPT has been associated with several neurodegenerative diseases and we previously reported a protective association of the MAPT H2 haplotype with MSA in 61 pathologically confirmed cases.

Methods

In the present study, we assessed the full MAPT haplotype diversity in MSA patients using six MAPT tagging SNPs. We genotyped a total of 127 pathologically confirmed MSA cases, 86 patients with clinically diagnosed MSA and 1312 controls.

Results

We identified four significant association signals in

SUBMITTER: Labbe C 

PROVIDER: S-EPMC5007155 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature