ArticleMolecular vision2010
Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese.
Article in Molecular vision, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Prevalence of Leber hereditary optic neuropathy in the Community of Madrid (Spain), estimation with a capture-recapture method.Orphanet journal of rare diseases · 2024Article
- Clinical Profile of Patients with Leber Hereditary Optic Neuropathy (LHON): An Ambispective Study of North Indian Cohorts.Annals of Indian Academy of Neurology · 2022Article
- Pathophysiology of Conversion to Symptomatic Leber Hereditary Optic Neuropathy and Therapeutic Implications: a Review.Current neurology and neuroscience reports · 2020Review
- A hospital-based five-year prospective study on the prevalence of Leber's hereditary optic neuropathy with genetic confirmation.Molecular vision · 2020Article
- Frequency and spectrum ofMitochondrial DNA. Part B, Resources · 2019Article
- Lethal Interaction of Nuclear and Mitochondrial Genotypes inG3 (Bethesda, Md.) · 2019Article
- Leber hereditary optic neuropathy: bridging the translational gap.Current opinion in ophthalmology · 2017Review
- Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathy.Molecular vision · 2016Article
- Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways.Cell death & disease · 2015Article
- Leber hereditary optic neuropathy: current perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2015Review
- Treatment strategies for inherited optic neuropathies: past, present and future.Eye (London, England) · 2014Review
- Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.Brain : a journal of neurology · 2014Article
- The optic nerve: a "mito-window" on mitochondrial neurodegeneration.Molecular and cellular neurosciences · 2013Review
- Treatment of hereditary optic neuropathies.Nature reviews. Neurology · 2012Review
- Disorders of the optic nerve in mitochondrial cytopathies: new ideas on pathogenesis and therapeutic targets.Current neurology and neuroscience reports · 2012Review
- LHON: Mitochondrial Mutations and More.Current genomics · 2011Article
- Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Progress in retinal and eye research · 2011Review
- No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A.Human genetics · 2010Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo test the association of the X-chromosome regions (Xp21.1-q21.2 and Xq25-27.2) with Leber hereditary optic neuropathy (LHON) in Chinese patients.
methodsOne hundred and seventy-five male LHON patients with the G11778A mutation and 100 unrelated normal males participated. Twelve microsatellite markers and four single-nucleotide polymorphisms (SNPs) were genotyped for patients and controls. A chi(2) or Fisher's exact test was used to compare the frequencies of genotypes as well as haplotypes in the two groups.
resultsSignificant differences between patients and controls were found in two isolated microsatellite markers (DXS6803: chi(2)=37.17, p=2.45 x 10(-5); DXS984: chi(2)=33.88, p=1.66 x 10(-6)) based on genotype frequencies. However, no significant differences for genotype and haplotype frequencies were found in the other 14 markers located in the two reported regions of Xp21.1-q21.2 and Xq25-27.2.
conclusionsOur results provide suggestive evidence of X-linked modifiers on the expression of LHON. Further studies are needed to identify the exact nuclear genes that might affect LHON expression.
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