Title | Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. |
Publication Type | Journal Article |
Year of Publication | 2005 |
Authors | Ghezzi, D, Marelli, C, Achilli, A, Goldwurm, S, Pezzoli, G, Barone, P, Pellecchia, MTeresa, Stanzione, P, Brusa, L, Bentivoglio, ARita, Bonuccelli, U, Petrozzi, L, Abbruzzese, G, Marchese, R, Cortelli, P, Grimaldi, D, Martinelli, P, Ferrarese, C, Garavaglia, B, Sangiorgi, S, Carelli, V, Torroni, A, Albanese, A, Zeviani, M |
Journal | Eur J Hum Genet |
Volume | 13 |
Issue | 6 |
Pagination | 748-52 |
Date Published | 2005 Jun |
ISSN | 1018-4813 |
Keywords | Age of Onset, Aged, Case-Control Studies, Cohort Studies, DNA, Mitochondrial, Female, Genetic Predisposition to Disease, Haplotypes, Humans, Italy, Male, Middle Aged, Parkinson Disease, Polymorphism, Single Nucleotide, Risk Factors |
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 >50 year 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. |
DOI | 10.1038/sj.ejhg.5201425 |
Alternate Journal | Eur. J. Hum. Genet. |
Citation Key | 10.1038/sj.ejhg.5201425 |
PubMed ID | 15827561 |
Grant List | GGP030039 / / Telethon / Italy |