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01-11-2008 | Parkinson's Disease and Allied Conditions - Original Article

Mitochondrial DNA haplogroups and subhaplogroups are associated with Parkinson’s disease risk in a Polish PD cohort

Authors: Katarzyna Gaweda-Walerych, Aleksandra Maruszak, Krzysztof Safranow, Monika Bialecka, Gabriela Klodowska-Duda, Krzysztof Czyzewski, Jaroslaw Slawek, Monika Rudzinska, Maria Styczynska, Grzegorz Opala, Marek Drozdzik, Jeffrey A. Canter, Maria Barcikowska, Cezary Zekanowski

Published in: Journal of Neural Transmission | Issue 11/2008

Abstract

mtDNA common variation is inconsistently reported to modify the risk of Parkinson’s disease (PD). We evaluated the impact of the mitochondrial haplogroups, subhaplogroups, coding and non-coding single-nucleotide polymorphisms on PD risk in 241 PD patients and 277 control subjects. After stratification by gender, we found that haplogroup J (OR 0.19; 95% CI 0.069–0.53; P = 0.0014) was associated with a lower PD risk in males. Unexpectedly, subhaplogroup analysis based on the control region (CR) polymorphisms demonstrated that subcluster K1a was more prevalent in healthy controls, while K1c was more frequent in PD patients (P = 0.025 and P = 0.011, respectively; two-tailed Fisher’s exact test). Additionally, we confirmed the hypothesis that sublineages (U4 + U5a1 + K+J1c + J2), previously proposed to partially uncouple oxidative phosphorylation (OXPHOS), decrease PD risk (P = 0.027, χ² with Yates’ correction). The putative protective effect of uncoupling mtDNAs against PD might result from decreased production of reactive oxygen species. We propose that stratification into subhaplogroups or by gender could be necessary to reveal the involvement of specific mtDNA sublineages in PD pathogenesis.

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Title: Mitochondrial DNA haplogroups and subhaplogroups are associated with Parkinson’s disease risk in a Polish PD cohort
Authors: Katarzyna Gaweda-Walerych
Aleksandra Maruszak
Krzysztof Safranow
Monika Bialecka
Gabriela Klodowska-Duda
Krzysztof Czyzewski
Jaroslaw Slawek
Monika Rudzinska
Maria Styczynska
Grzegorz Opala
Marek Drozdzik
Jeffrey A. Canter
Maria Barcikowska
Cezary Zekanowski
Publication date: 01-11-2008
Publisher: Springer Vienna
Published in: Journal of Neural Transmission / Issue 11/2008
Print ISSN: 0300-9564
Electronic ISSN: 1435-1463
DOI: https://doi.org/10.1007/s00702-008-0121-9

At a glance: The STEP trials

Springer Medicine

Mitochondrial DNA haplogroups and subhaplogroups are associated with Parkinson’s disease risk in a Polish PD cohort

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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