TY - JOUR
T1 - Mitochondrial DNA haplogroup K is associated with a lower risk of parkinson's disease in Italians
AU - Ghezzi, Daniele
AU - Marelli, Cecilia
AU - Achilli, Alessandro
AU - Goldwurm, Stefano
AU - Pezzoli, Gianni
AU - Barone, Paolo
AU - Pellecchia, Maria Teresa
AU - Stanzione, Paolo
AU - Brusa, Livia
AU - Bentivoglio, Anna Rita
AU - Bonuccelli, Ubaldo
AU - Petrozzi, Lucia
AU - Abbruzzese, Giovanni
AU - Marchese, Roberta
AU - Cortelli, Pietro
AU - Grimaldi, Daniela
AU - Martinelli, Paolo
AU - Ferrarese, Carlo
AU - Garavaglia, Barbara
AU - Sangiorgi, Simonetta
AU - Carelli, Valerio
AU - Torroni, Antonio
AU - Albanese, Alberto
AU - Zeviani, Massimo
N1 - Funding Information:
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).
PY - 2005/6
Y1 - 2005/6
N2 - 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.
AB - 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.
KW - Mitochondrial DNA haplogroups
KW - Parkinson's disease
KW - Single nucleotide polymorphism
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U2 - 10.1038/sj.ejhg.5201425
DO - 10.1038/sj.ejhg.5201425
M3 - Article
C2 - 15827561
AN - SCOPUS:20544461885
SN - 1018-4813
VL - 13
SP - 748
EP - 752
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 6
ER -