Author/Authors :
Axel Schumacher، نويسنده , , Patricia Friedrich، نويسنده , , Janine Diehl-Schmid، نويسنده , , Bernd Ibach، نويسنده , , Tamara Eisele، نويسنده , , Simon M. Laws، نويسنده , , Hans F?rstl، نويسنده , , Alexander Kurz، نويسنده , , Matthias Riemenschneider، نويسنده ,
Abstract :
Mutations of the chromatin modifying protein 2B gene (CHMP2B) were identified, in a Danish pedigree, to cause familial frontotemporal dementia (FTD). To explore the possible genetic contribution of common CHMP2B variants in sporadic FTD, we analyzed 14 single nucleotide polymorphisms covering the entire genomic region of CHMP2B. After adjustment for multiple testing single marker and haplotype analysis revealed no significant association with sporadic FTD. Thus, we conclude that CHMP2B can be excluded as a susceptibility gene conferring risk to sporadic forms of FTD.
Keywords :
CHMP2B , POU1F1 , Frontotemporal dementia , Genetic analysis , association study