Unknown

Dataset Information

0

Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease.


ABSTRACT: Parkin (PRKN) mutations are a common cause of early-onset parkinsonism, however the role of this gene in typical late-onset Parkinson's disease (PD) remains unresolved. A single nucleotide polymorphism in the promoter region (PRKN-258; rs9347683) has been observed to associate with PD, affect age-at-onset (AAO) of symptoms, and to functionally effect differential expression of the PRKN transcript. In the present study, PRKN-258 did not associate with PD, and no evidence for an AAO effect was observed in three age and gender-matched Caucasian patient-control series from Norway, Ireland and the US. These data do not support a role for this common variant in PD etiology.

SUBMITTER: Ross OA 

PROVIDER: S-EPMC4381345 | biostudies-literature | 2007 Oct

REPOSITORIES: biostudies-literature

altmetric image

Publications

Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease.

Ross Owen A OA   Haugarvoll Kristoffer K   Stone Jeremy T JT   Heckman Michael G MG   White Linda R LR   Aasly Jan O JO   Mark Gibson J J   Lynch Timothy T   Wszolek Zbigniew K ZK   Uitti Ryan J RJ   Farrer Matthew J MJ  

Parkinsonism & related disorders 20070402 7


Parkin (PRKN) mutations are a common cause of early-onset parkinsonism, however the role of this gene in typical late-onset Parkinson's disease (PD) remains unresolved. A single nucleotide polymorphism in the promoter region (PRKN-258; rs9347683) has been observed to associate with PD, affect age-at-onset (AAO) of symptoms, and to functionally effect differential expression of the PRKN transcript. In the present study, PRKN-258 did not associate with PD, and no evidence for an AAO effect was obs  ...[more]

Similar Datasets

| S-EPMC6399152 | biostudies-literature
| S-EPMC3917761 | biostudies-literature
| S-EPMC3798304 | biostudies-literature
| S-EPMC2693817 | biostudies-literature
| S-EPMC2823263 | biostudies-literature
| S-EPMC7138199 | biostudies-literature
| S-EPMC8382284 | biostudies-literature
| S-EPMC3384592 | biostudies-other
| S-EPMC4100037 | biostudies-literature
| S-EPMC7523699 | biostudies-literature