ArticlePloS one2011
Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in Chinese patients.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Mitochondrial DNA haplogroup confers genetic susceptibility to nasopharyngeal carcinoma in Chaoshanese from Guangdong, China.PloS one · 2014Trial
- Analysis of genetic risk factors for Leber hereditary optic neuropathy in the Polish population.Journal of applied genetics · 2026Article
- Associations between peripheral blood mitochondrial genomic variants and gestational diabetes mellitus and postpartum abnormal glucose metabolism.Journal of diabetes investigation · 2025Article
- Evaluation of Visual and Optical Coherence Tomography Outcomes in Patients with Leber's Hereditary Optic Neuropathy Treated with Idebenone.Life (Basel, Switzerland) · 2025Article
- Risk Factors Associated With Leber Hereditary Optic Neuropathy due to Rare Mutations in Mitochondrial DNA-Encoded Respiratory Complex I Subunits.Clinical genetics · 2025Review
- Whole mitochondrial genome sequencing in individuals with Leber hereditary optic neuropathy negative for the common pathogenic mitochondrial DNA variants.Frontiers in neurology · 2025Article
- Optic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups.International journal of molecular sciences · 2023Article
- The epidemiology and mutation types of Leber's hereditary optic neuropathy in Thailand.Annals of medicine · 2022Article
- Leber hereditary optic neuropathy-new insights and old challenges.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2021Review
- Investigating the importance of individual mitochondrial genotype in susceptibility to drug-induced toxicity.Biochemical Society transactions · 2020Review
- Mitogenome germline mutations and colorectal cancer risk in Polish population.Archives of medical science : AMS · 2020Article
- Mitochondrial DNA Haplogroup N9a Negatively Correlates with Incidence of Hepatocellular Carcinoma in Northern China.Molecular therapy. Nucleic acids · 2019Article
- Mitochondrial Polymorphisms, in The D-Loop Area, Are Associated with Brain Tumors.Cell journal · 2019Article
- Leber's Hereditary Optic Neuropathy-Specific Heteroplasmic Mutation m.14495A>G Found in a Chinese Family.Translational vision science & technology · 2019Article
- Correlations between mitochondrial DNA haplogroup D5 and chronic hepatitis B virus infection in Yunnan, China.Scientific reports · 2018Article
- Mitochondrial DNA Mutations Associated with Type 2 Diabetes Mellitus in Chinese Uyghur Population.Scientific reports · 2017Article
- Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy.Indian journal of ophthalmology · 2017Review
- The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy.Molecular neurobiology · 2017Article
- Mitochondrial haplogroup M9a1a1c1b is associated with hypoxic adaptation in the Tibetans.Journal of human genetics · 2016Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent studies have shown that mtDNA background could affect the clinical expression of Leber hereditary optic neuropathy (LHON). We analyzed the mitochondrial DNA (mtDNA) variation of 304 Chinese patients with m.11778G>A (sample #1) and of 843 suspected LHON patients who lack the three primary mutations (sample #2) to discern mtDNA haplogroup effect on disease onset. Haplogroup frequencies in the patient group was compared to frequencies in the general Han Chinese population (n = 1,689; sample #3). The overall matrilineal composition of the suspected LHON population resembles that of the general Han Chinese population, suggesting no association with mtDNA haplogroup. In contrast, analysis of these LHON patients confirms mtDNA haplogroup effect on LHON. Specifically, the LHON sample significantly differs from the general Han Chinese and suspected LHON populations by harboring an extremely lower frequency of haplogroup R9, in particular of its main sub-haplogroup F (#1 vs. #3, P-value = 1.46×10(-17), OR = 0.051, 95% CI: 0.016-0.162; #1 vs. #2, P-value = 4.44×10(-17), OR = 0.049, 95% CI: 0.015-0.154; in both cases, adjusted P-value <10(-5)) and higher frequencies of M7b (#1 vs. #3, adjusted P-value = 0.001 and #1 vs. #2, adjusted P-value = 0.004). Our result shows that mtDNA background affects LHON in Chinese patients with m.11778G>A but not suspected LHON. Haplogroup F has a protective effect against LHON, while M7b is a risk factor.
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