MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies.

ABSTRACT:

Introduction

The MAPT H1 haplotype has been associated with several neurodegenerative diseases. We were interested in exploring the role of MAPT haplotypic variation in risk of dementia with Lewy bodies (DLB).

Method

We genotyped six MAPT haplotype tagging SNPs and screened 431 clinical DLB cases, 347 pathologically defined high-likelihood DLB cases, and 1049 controls.

Result

We performed haplotypic association tests and detected an association with the protective H2 haplotype in our combined series (odds ratio [OR] = 0.75). We fine-mapped the locus and identified a relatively rare haplotype, H1G, that is associated with an increased risk of DLB (OR = 3.30, P = .0017). This association was replicated in our pathologically defined series (OR = 2.26, P = .035).

Discu

SUBMITTER: Labbe C 

PROVIDER: S-EPMC5143206 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature