title: Apolipoprotein E and alpha-1-antichymotrypsin polymorphisms in sporadic inclusion body myositis.
abstract: Sporadic inclusion body myositis (s-IBM) is a progressive muscle disease of unknown aetiology. Characteristically, intracellular amyloid deposits are detectable, including beta-amyloid precursor protein, phosphorylated tau, alpha1-antichymotrypsin (alpha1-ACT) and apolipoprotein E (ApoE). Polymorphisms and mutations of the encoding genes have been identified in a variety of neurodegenerative diseases including Alzheimer's disease (AD). Beside other factors, polymorphisms may lead to protein accumulation in both diseases. In particular, polymorphisms within the ApoE and alpha1-ACT gene have been implicated in the aetiology of AD and s-IBM. We analysed ApoE and alpha1-ACT gene polymorphisms in 35 s-IBM patients. We could not identify any statistical significant correlation between distinct ApoE and alpha1-ACT genotypes and the risk of developing s-IBM. Additionally, ApoE and alpha1-ACT genotypes seem not to influence the onset age of s-IBM. A combination of different alpha1-ACT and ApoE genotypes appears not to enhance the risk of developing s-IBM. Therefore, allelic variations of alpha1-ACT and ApoE are unlikely to be genetic key factors in the aetiology of s-IBM.
authors.affiliation: Department of Neurology, Medical Clinic II, Technical University Dresden, Dresden, Germany. ggossrau@uni-bonn.de
authors.forename: G
authors.initials: G
authors.lastname: Gossrau
authors.forename: B
authors.initials: B
authors.lastname: Gestrich
authors.forename: R
authors.initials: R
authors.lastname: Koch
authors.forename: C
authors.initials: C
authors.lastname: Wunderlich
authors.forename: J M
authors.initials: JM
authors.lastname: Schröder
authors.forename: S
authors.initials: S
authors.lastname: Schroeder
authors.forename: H
authors.initials: H
authors.lastname: Reichmann
authors.forename: J B
authors.initials: JB
authors.lastname: Lampe
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001057:Apolipoproteins E / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D018979:Myositis, Inclusion Body / Q000235:genetics*; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D000514:alpha 1-Antichymotrypsin / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E; D012333:RNA, Messenger; D000514:alpha 1-Antichymotrypsin