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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Vydáno v:Human molecular genetics Ročník 17; číslo 13; s. 1988
Hlavní autoři: Simón-Sánchez, Javier, Singleton, Andrew B
Médium: Journal Article
Jazyk:angličtina
Vydáno: England 01.07.2008
Témata:
Adolescent
Adult
Age of Onset
Aged
Aged, 80 and over
Cohort Studies
Female
High-Temperature Requirement A Serine Peptidase 2
Humans
Male
Middle Aged
Mitochondrial Proteins - genetics
Mutation
Parkinson Disease - genetics
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
Serine Endopeptidases - genetics
ISSN:1460-2083, 1460-2083
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Shrnutí: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.
Bibliografie:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:1460-2083
1460-2083
DOI:10.1093/hmg/ddn096