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A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.

Abstract：

:Frontotemporal dementia (FTD) is the second most prevalent form of early onset dementia after Alzheimer's disease (AD). We performed a case-control association study in an Italian FTD cohort (n = 530) followed by the novel single nucleotide polymorphisms (SNPs)-to-genes approach and functional annotation analysis. We identified 2 novel potential loci for FTD. Suggestive SNPs reached p-values ∼10(-7) and odds ratio > 2.5 (2p16.3) and 1.5 (17q25.3). Suggestive alleles at 17q25.3 identified a disease-associated haplotype causing decreased expression of -cis genes such as RFNG and AATK involved in neuronal genesis and differentiation and axon outgrowth, respectively. We replicated this locus through the SNPs-to-genes approach. Our functional annotation analysis indicated significant enrichment for functions of the brain (neuronal genesis, differentiation, and maturation), the synapse (neurotransmission and synapse plasticity), and elements of the immune system, the latter supporting our recent international FTD-genome-wide association study. This is the largest genome-wide study in Italian FTD to date. Although our results are not conclusive, we set the basis for future replication studies and identification of susceptible molecular mechanisms involved in FTD pathogenesis.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Ferrari R,Grassi M,Salvi E,Borroni B,Palluzzi F,Pepe D,D'Avila F,Padovani A,Archetti S,Rainero I,Rubino E,Pinessi L,Benussi L,Binetti G,Ghidoni R,Galimberti D,Scarpini E,Serpente M,Rossi G,Giaccone G,Tagliavini F

doi

10.1016/j.neurobiolaging.2015.06.005

subject

Has Abstract

pub_date

2015-10-01 00:00:00

pages

2904.e13-26

issue

10

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(15)00316-4

journal_volume

36

pub_type

杂志文章

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