Abstract
It has been proposed that European mitochondrial DNA (mtDNA) haplogroups J and K, and their shared 10398G single-nucleotide polymorphism (SNP) in the ND3 gene, are protective from Parkinson's disease (PD). We evaluated the distribution of the different mtDNA haplogroups in a large cohort of 620 Italian patients with adult-onset (>50, <65 years of age) idiopathic PD vs two groups of ethnic-matched controls. Neither the frequencies of haplogroup J nor that of 10398G were significantly different. However, the frequency of haplogroup K was significantly lower in PD. Stratification by sex and age indicated that the difference in the distribution of haplogroup K was more prominent in >50year old males. In spite of the common 10398G SNP, haplogroups J and K belong to widely diverging mitochondrial clades, a consideration that may explain the different results obtained for the two haplogroups in our cohorts. Our study suggests that haplogroup K might confer a lower risk for PD in Italians, corroborating the idea that the mitochondrial oxidative phosphorylation pathway is involved in the susceptibility to idiopathic PD.
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Acknowledgements
We thank Emilio Ciusani and Danilo Croci for providing the CT2 sample. This study was supported by Telethon-Italy (Grant No. GGP030039), Fondazione Mariani, Italian Ministry of Health Grant RF-2002/158, Fondazione Cariplo, and EUMITOCOMBAT network grant from the EU-FP6 (to MZ); Telethon Grant No. GTF03009 (to ST and GP); CNR-MIUR grant Genomica Funzionale-Legge 449/97 (to AT); Italian Ministry of the University (Progetti Ricerca Interesse Nazionale 2003) (to AT); and ‘Fondazione Gino Galletti’ (to VC).
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Ghezzi, D., Marelli, C., Achilli, A. et al. Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur J Hum Genet 13, 748–752 (2005). https://doi.org/10.1038/sj.ejhg.5201425
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DOI: https://doi.org/10.1038/sj.ejhg.5201425
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