{"doi":"10.1038/sj.ejhg.5201425","title":"Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians","abstract":null,"journal":"European Journal of Human Genetics","year":2005,"id":605623,"datarank":0.8006307119551977,"base_score":5.337538079701318,"endowment":5.337538079701318,"self_citation_contribution":0.8006307119551977,"citation_network_contribution":0.0,"self_endowment_contribution":0.8006307119551977,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":207,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1554345,"name":"Cecilia Marelli","orcid":null,"position":1,"is_corresponding":false},{"id":628438,"name":"Alessandro Achilli","orcid":"0000-0001-6871-3451","position":2,"is_corresponding":false},{"id":558554,"name":"Stefano Goldwurm","orcid":"0000-0002-1651-567X","position":3,"is_corresponding":false},{"id":644705,"name":"Gianni Pezzoli","orcid":"0000-0003-4665-6710","position":4,"is_corresponding":false},{"id":906277,"name":"Paolo Barone","orcid":"0000-0001-8965-2504","position":5,"is_corresponding":false},{"id":669898,"name":"Maria Teresa Pellecchia","orcid":"0000-0002-6217-313X","position":6,"is_corresponding":false},{"id":1554350,"name":"Paolo Stanzione","orcid":null,"position":7,"is_corresponding":false},{"id":1554351,"name":"Livia Brusa","orcid":null,"position":8,"is_corresponding":false},{"id":34695,"name":"Anna Rita Bentivoglio","orcid":"0000-0002-9663-095X","position":9,"is_corresponding":false},{"id":694483,"name":"Ubaldo Bonuccelli","orcid":null,"position":10,"is_corresponding":false},{"id":1554352,"name":"Lucia Petrozzi","orcid":null,"position":11,"is_corresponding":false},{"id":1537587,"name":"Giovanni Abbruzzese","orcid":null,"position":12,"is_corresponding":false},{"id":1537591,"name":"Roberta Marchese","orcid":null,"position":13,"is_corresponding":false},{"id":227560,"name":"Pietro Cortelli","orcid":"0000-0002-3633-8818","position":14,"is_corresponding":false},{"id":322823,"name":"Daniela Grimaldi","orcid":"0000-0002-6983-4391","position":15,"is_corresponding":false},{"id":1554354,"name":"Paolo Martinelli","orcid":null,"position":16,"is_corresponding":false},{"id":34699,"name":"Carlo Ferrarese","orcid":"0000-0002-7499-6600","position":17,"is_corresponding":false},{"id":510367,"name":"Barbara Garavaglia","orcid":"0000-0003-4323-9145","position":18,"is_corresponding":false},{"id":1554355,"name":"Simonetta Sangiorgi","orcid":null,"position":19,"is_corresponding":false},{"id":1554356,"name":"Valerio Carelli","orcid":null,"position":20,"is_corresponding":false},{"id":991941,"name":"Antonio Torroni","orcid":"0000-0002-4163-4478","position":21,"is_corresponding":false},{"id":1021071,"name":"Alberto Albanese","orcid":"0000-0002-5864-0006","position":22,"is_corresponding":false},{"id":256271,"name":"Massimo Zeviani","orcid":"0000-0002-9067-5508","position":23,"is_corresponding":false},{"id":350246,"name":"Daniele Ghezzi","orcid":"0000-0002-6564-3766","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians","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.","is_dataset_classified":null,"base_score":0.0,"endowment":0.0,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"15827561","pmcid":null,"openalex_id":null,"authors":[],"funders":[{"funder_name":"Telethon","grant_id":"GGP030039","title":null}],"total_grants":1,"fwci":null,"citation_percentile":null,"influential_citations":0,"citation_trend":[],"oa_status":"green","license":"other-oa","oa_locations":[{"url":"http://hdl.handle.net/2434/781361","host_type":"repository"},{"url":"http://www.nature.com/articles/5201425.pdf","host_type":"publisher"},{"url":"http://www.nature.com/articles/5201425","host_type":"publisher"}],"fields_of_study":[],"mesh_terms":["Humans","Parkinson Disease","Genetic Predisposition to Disease","DNA, Mitochondrial","Risk Factors","Case-Control Studies","Cohort Studies","Age of Onset","Haplotypes","Polymorphism, Single Nucleotide","Aged","Middle Aged","Italy","Female","Male"],"keywords":[],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-30T02:53:32.257671Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}