Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls

A novel heterozygous non-synonymous mutation and a novel polymorphism in OMI/HTRA2 locus have been associated with Parkinson's disease (PD) in a German population. In an attempt to replicate these results in an independent population, we analyzed the entire coding region of OMI/HTRA2 in a serie...

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Bibliographic Details
Published in:Human molecular genetics 2008-07, Vol.17 (13), p.1988-1993
Main Authors: Simón-Sánchez, Javier, Singleton, Andrew B.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age of Onset
Aged
Aged, 80 and over
Biological and medical sciences
Cohort Studies
Female
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
High-Temperature Requirement A Serine Peptidase 2
Humans
Male
Middle Aged
Mitochondrial Proteins - genetics
Molecular and cellular biology
Mutation
Parkinson Disease - genetics
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
Serine Endopeptidases - genetics
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Summary:A novel heterozygous non-synonymous mutation and a novel polymorphism in OMI/HTRA2 locus have been associated with Parkinson's disease (PD) in a German population. In an attempt to replicate these results in an independent population, we analyzed the entire coding region of OMI/HTRA2 in a series of 644 North American PD cases with both young- and late-onset disease and in 828 North American neurologically normal controls. Our results show that neither of the variants previously related to PD were associated with PD in our cohort and that the risk variants were present in neurologically normal controls.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/ddn096