Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comparative Study
. 2004 Sep;56(3):329-35.
doi: 10.1002/ana.20206.

The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism

Daniel G Healy  1 , Patrick M Abou-Sleiman, Kourosh R Ahmadi, Miratul M K Muqit, Kailash P Bhatia, Niall P Quinn, Andrew J Lees, David S Latchmann, David B Goldstein, Nicholas W Wood
Affiliations
Comparative Study

The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism

Daniel G Healy et al. Ann Neurol. 2004 Sep.

Abstract

Mutations in the PINK1 gene (PARK6), a putative serine-threonine kinase, cause autosomal recessive Parkinson's disease. PINK1 functions as a protein kinase and confers protective effects in the mitochondria, where it is primarily located. We assessed in a population of European ancestry whether common genetic variation in this novel gene influences nonmendelian forms of Parkinson's disease. We defined the linkage disequilibrium structure of PINK1 and used this to identify a set of tagging single nucleotide polymorphisms that we estimate will efficiently represent all of the common DNA variation in the entire gene. Genotyping these tags in a set of 576 Parkinson's disease patients and 514 controls did not demonstrate a case-control partition for allele or for haplotype and thus provides evidence against the existence of a common functional variants in PINK1 that has a strong influence on PD risk.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

Substances

LinkOut - more resources