title: Identification of 167 polymorphisms in 88 genes from candidate neurodegeneration pathways.
abstract: Catalogs of intra-gene polymorphisms are needed to facilitate wide-ranging candidate gene-based association studies in common complex diseases. With this in mind, we have scanned multiple alignments of expressed sequence tags and of genomic DNA sequences (PCR products from four to eight unrelated individuals) to find polymorphisms in 195 genes putatively involved in neurodegenerative illness (including components of oxidative stress, excitotoxicity, inflammation, apoptosis and aging). This led to the discovery of 167 polymorphisms in 88 genes. These comprised 163 single nucleotide polymorphisms, one insertion/deletion, and three other variations involving more than one base pair. The polymorphisms were distributed in the exons (87), introns (70), and gene flanking regions (10). Of the exonic polymorphisms, 17 would give rise to non-synonymous amino acid substitutions. These findings now provide a valuable resource for association studies in neurodegenerative disorders such as Alzheimer's disease and Parkinson's disease.
authors.affiliation: Center for Genomics Research, Karolinska Institute, Stockholm, Sweden.
authors.forename: T
authors.initials: T
authors.lastname: Emahazion
authors.forename: M
authors.initials: M
authors.lastname: Jobs
authors.forename: W M
authors.initials: WM
authors.lastname: Howell
authors.forename: M
authors.initials: M
authors.lastname: Siegfried
authors.forename: P I
authors.initials: PI
authors.lastname: Wyöni
authors.forename: J A
authors.initials: JA
authors.lastname: Prince
authors.forename: A J
authors.initials: AJ
authors.lastname: Brookes
mesh_terms: D019143:Evolution, Molecular; D006801:Humans; D019636:Neurodegenerative Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide