{"doi":"10.1093/jnci/djac012","title":"Identification of Mitochondrial DNA Variants Associated With Risk of Neuroblastoma","abstract":"Neuroblastoma is a childhood cancer that originates in the developing sympathetic nervous system. We previously reported a crucial role of mitochondrial DNA haplogroups in the pathology of neuroblastoma. To pinpoint mitochondrial DNA variants associated with neuroblastoma risk, we applied a mitochondrial genome imputation pipeline to the single nucleotide polymorphisms array data of 2 pediatric cohorts containing a total of 2404 neuroblastoma patients and 9310 cancer-free controls. All statistical tests were 2-sided. The single nucleotide variant, rs2853493, was statistically significantly associated with neuroblastoma risk in the discovery cohort (odds ratio = 0.62, 95% confidence interval = 0.53 to 0.72, P < .001) and further confirmed in the replication cohort (odds ratio = 0.75, 95% confidence interval = 0.62 to 0.90, P = .002). Further, expression quantitative trait loci analysis indicated genotypes of rs2853493 were associated with expression levels of MT-CYB gene expression in neuroblastoma cells, suggesting rs2853493 may confer risk to neuroblastoma via regulating the expression level of its nearby genes.","journal":"JNCI Journal of the National Cancer Institute","year":2022,"id":273650,"datarank":0.3596842909197557,"base_score":2.3978952727983707,"endowment":2.3978952727983707,"self_citation_contribution":0.3596842909197557,"citation_network_contribution":0.0,"self_endowment_contribution":0.3596842909197557,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":10,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.7871,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":374077,"name":"Yichuan Liu","orcid":"0000-0003-2023-072X","position":1,"is_corresponding":false},{"id":40237,"name":"Joseph Glessner","orcid":"0000-0001-5131-2811","position":2,"is_corresponding":false},{"id":293480,"name":"Cuiping Hou","orcid":null,"position":3,"is_corresponding":false},{"id":51488,"name":"Hui‐Qi Qu","orcid":"0000-0001-9317-4488","position":4,"is_corresponding":false},{"id":374078,"name":"Kenny Nguyen","orcid":"0000-0003-3797-5226","position":5,"is_corresponding":false},{"id":95126,"name":"Patrick Sleiman","orcid":"0000-0001-9874-8532","position":6,"is_corresponding":false},{"id":941662,"name":"Lobin Lee","orcid":null,"position":7,"is_corresponding":false},{"id":32676,"name":"Sharon J. Diskin","orcid":"0000-0002-7200-8939","position":8,"is_corresponding":false},{"id":240511,"name":"John M. Maris","orcid":"0000-0002-8088-7929","position":9,"is_corresponding":false},{"id":37445,"name":"Håkon Håkonarson","orcid":"0000-0003-2814-7461","position":10,"is_corresponding":false},{"id":291562,"name":"Xiao Chang","orcid":"0000-0002-0230-0416","position":0,"is_corresponding":true}],"reference_count":26,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T00:28:03.504676Z","pmid":"35134187","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":[]}