Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10285036" target="_blank" >RIV/00216208:11110/14:10285036 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064190:_____/14:#0000793

Výsledek na webu

<a href="http://dx.doi.org/10.1007/s00401-014-1298-7" target="_blank" >http://dx.doi.org/10.1007/s00401-014-1298-7</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s00401-014-1298-7" target="_blank" >10.1007/s00401-014-1298-7</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Popis výsledku v původním jazyce

Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended cohortof 1,808 patients with frontotemporal lobar degeneration (FTLD), ascertained within the European Early-Onset Dementia consortium. As control dataset, we sequenced 1,625 European control individuals and analyzed whole-exome sequence data of 2,274 Germanindividuals (total n = 3,899). Association of rare SQSTM1 mutations was calculated in a meta-analysis of 4,332 FTLD and 10,240 control alleles. We identified 25 coding variants in FTLD patients of which 10 have not been described. Fifteen mutations wereabsent in the control individuals (carrier frequency < 0.00026) whilst the others were rare in both patients and control individuals. When pooling all variants with a minor allele frequency < 0.01, an overall frequency of 3.2 % was calcul

Název v anglickém jazyce

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Popis výsledku anglicky

Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended cohortof 1,808 patients with frontotemporal lobar degeneration (FTLD), ascertained within the European Early-Onset Dementia consortium. As control dataset, we sequenced 1,625 European control individuals and analyzed whole-exome sequence data of 2,274 Germanindividuals (total n = 3,899). Association of rare SQSTM1 mutations was calculated in a meta-analysis of 4,332 FTLD and 10,240 control alleles. We identified 25 coding variants in FTLD patients of which 10 have not been described. Fifteen mutations wereabsent in the control individuals (carrier frequency < 0.00026) whilst the others were rare in both patients and control individuals. When pooling all variants with a minor allele frequency < 0.01, an overall frequency of 3.2 % was calcul

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FH - Neurologie, neurochirurgie, neurovědy

OECD FORD obor

—

Projekt

<a href="/cs/project/NT12094" target="_blank" >NT12094: Multidisciplinární přístup v diagnostice frontotemporálních lobárních degenerací a tauopatií: komplexní pohled na patogenetické mechanismy</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Acta Neuropathologica

ISSN

0001-6322

e-ISSN

—

Svazek periodika

128

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

DE - Spolková republika Německo

Počet stran výsledku

14

Strana od-do

397-410

Kód UT WoS článku

000340551900007

EID výsledku v databázi Scopus

—