TOMM40, APOE, and APOC1 in primary progressive aphasia and frontotemporal dementia

The aim of this study was to investigate the apolipoprotein E (APOE) chromosomal region in frontotemporal lobar degeneration (FTLD), and in particular in primary progressive aphasia (PPA) and the behavioral variant frontotemporal dementia (bvFTD). To this aim, we selected three single-nucleotide polymorphisms (SNPs) rs2075650 and rs157590 (TOMM40), and rs1064725 (APOC1), representative of the linkage disequilibrium (LD) blocks at the 19q13-q13.2 chromosomal region. The SNPs rs429358 and rs7412 forming the APOE polymorphism were also included in the study. The analysis was made in 282 patients with a clinical diagnosis of sporadic FTLD, namely 207 bvFTD and 75 PPA, and 296 cognitively healthy control subjects. LD (r2 = 0.35) between TOMM40 (rs2075650) and APOC1 (rs1064725) was observed in PPA, but not in controls and in bvFTD. Inside this region of 26.9 kb, LD (r2 ≥ 0.50) between TOMM40 (rs2075650) and APOE (rs429358) was observed in bvFTD and in controls, but not in PPA. Inside this region of 16.3 kb, LD (r2 = 0.14) between TOMM40 (rs157590) and APOE (rs429358) was observed in PPA, but not in bvFTD and in controls. Although the genetics of PPA and bvFTD needs further investigation, our results suggested the presence of a different genetic background underlying PPA and bvFTD at the 19q13-q13.2 chromosomal region.

Medienart:

E-Artikel

Erscheinungsjahr:

2012

Erschienen:

2012

Enthalten in:

Zur Gesamtaufnahme - volume:31

Enthalten in:

Journal of Alzheimer's disease : JAD - 31(2012), 4 vom: 23., Seite 731-40

Sprache:

Englisch

Beteiligte Personen:

Seripa, Davide [VerfasserIn]
Bizzarro, Alessandra [VerfasserIn]
Pilotto, Andrea [VerfasserIn]
Palmieri, Orazio [VerfasserIn]
Panza, Francesco [VerfasserIn]
D'Onofrio, Grazia [VerfasserIn]
Gravina, Carolina [VerfasserIn]
Archetti, Silvana [VerfasserIn]
Daniele, Antonio [VerfasserIn]
Borroni, Barbara [VerfasserIn]
Padovani, Alessandro [VerfasserIn]
Masullo, Carlo [VerfasserIn]

Links:

Volltext

Themen:

APOC1 protein, human
Apolipoprotein C-I
Apolipoproteins E
Journal Article
Membrane Transport Proteins
Mitochondrial Precursor Protein Import Complex Proteins
Multicenter Study
Research Support, Non-U.S. Gov't
TOMM40 protein, human

Anmerkungen:

Date Completed 08.07.2013

Date Revised 03.12.2021

published: Print

Citation Status MEDLINE

doi:

10.3233/JAD-2012-120403

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM218734638