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PMID: 18790661 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Genetic variation of Omi/HtrA2 and Parkinson's disease.

Parkinsonism & related disorders ·Vol. 14 ·No. 7 ·2008-11-00 ·Pages 539-43

Ross OA, Soto AI, Vilariño-Güell C, Heckman MG, Diehl NN, Hulihan MM, Aasly JO, Sando S, Gibson JM, Lynch T, Krygowska-Wajs A, Opala G, Barcikowska M, Czyzewski K, Uitti RJ, Wszolek ZK, Farrer MJ

Abstract

Variants in the Omi/HtrA2 gene have been nominated as a cause of Parkinson's disease. This sequencing study of Omi/HtrA2 in 95 probands with apparent autosomal dominant inheritance of Parkinson's disease did not identify any pathogenic mutations. In addition, there was no association between common variations in the Omi/HtrA2 gene and susceptibility to Parkinson's disease in any of our four patient-control series (n=2373). Taken together our results do not support a role for Omi/HtrA2 variants in the pathogenesis of Parkinson's disease.

MeSH Terms
Adult Aged Aged, 80 and over Chi-Square Distribution Female Gene Frequency Genetic Predisposition to Disease Genetic Testing Genetic Variation/genetics High-Temperature Requirement A Serine Peptidase 2 Humans Logistic Models Male Middle Aged Mitochondrial Proteins/genetics Molecular Sequence Data Parkinson Disease/genetics Serine Endopeptidases/genetics
Chemicals
Mitochondrial Proteins Serine Endopeptidases HTRA2 protein, human High-Temperature Requirement A Serine Peptidase 2
Authors & Affiliations
17 authors, click to expand affiliations / ORCID
Ross Owen A
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, United States. ross.owen@mayo.edu
Soto Alexandra I
Vilariño-Güell Carles
Heckman Michael G
Diehl Nancy N
Hulihan Mary M
Aasly Jan O
Sando Sigrid
Gibson J Mark
Lynch Timothy
Krygowska-Wajs Anna
Opala Grzegorz
Barcikowska Maria
Czyzewski Krzysztof
Uitti Ryan J
Wszolek Zbigniew K
Farrer Matthew J
References (10)
10 references, click to expand
  1. Score tests for association between traits and haplotypes when linkage phase is ambiguous.
    Am J Hum Genet. 2002 Feb;70(2):425-34 PMID: 11791212
  2. Diagnostic criteria for Parkinson disease.
    Arch Neurol. 1999 Jan;56(1):33-9 PMID: 9923759
  3. Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.
    Hum Mol Genet. 2005 Aug 1;14(15):2099-111 PMID: 15961413
  4. Neuroprotective role of the Reaper-related serine protease HtrA2/Omi revealed by targeted deletion in mice.
    Mol Cell Biol. 2004 Nov;24(22):9848-62 PMID: 15509788
  5. Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice.
    Nature. 2003 Oct 16;425(6959):721-7 PMID: 14534547
  6. Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.
    Hum Mol Genet. 2008 Jul 1;17(13):1988-93 PMID: 18364387
  7. The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1.
    Nat Cell Biol. 2007 Nov;9(11):1243-52 PMID: 17906618
  8. Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease.
    Hum Mutat. 2008 Jun;29(6):832-40 PMID: 18401856
  9. Expanding insights of mitochondrial dysfunction in Parkinson's disease.
    Nat Rev Neurosci. 2006 Mar;7(3):207-19 PMID: 16495942
  10. Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.
    Am J Hum Genet. 2008 Apr;82(4):822-33 PMID: 18358451
Article Info
Journal
Parkinsonism & related disorders
Abbr.
Parkinsonism Relat Disord
ISSN
1353-8020
DOI
10.1016/j.parkreldis.2008.08.003
Email
ross.owen@mayo.edu
Published
2008-11-00
Epub
2008-00-14
Pages
539-43
Language
English
Region
England
NLM ID
9513583
PMCID
PMC2614082
Subset
IM
Grants
NINDS NIH HHS · P50 NS040256-089002 · United States
NINDS NIH HHS · P50 NS040256-08 · United States
NINDS NIH HHS · P50 NS040256 · United States
NINDS NIH HHS · P50 NS40256 · United States
NINDS NIH HHS · P01 NS040256 · United States
NINDS NIH HHS · P50 NS040256-080004 · United States
External Links
PubMed source DOI: 10.1016/j.parkreldis.2008.08.003 PMC Full Text View journal details
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