ArticleHuman genetics2010
No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A.
Article in Human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed, 22 citations in OpenAlex.
- 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
- Frequency and spectrum ofMitochondrial DNA. Part B, Resources · 2019Article
- Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China.Scientific reports · 2016Article
- Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.Brain : a journal of neurology · 2014Article
- Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients.Journal of translational medicine · 2012Article
- Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Progress in retinal and eye research · 2011Review
- LHON: Mitochondrial Mutations and More.Current genomics · 2011Article
- Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in Chinese patients.PloS one · 2011Article
- Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?PloS one · 2011Article
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
According to a recent genome-wide linkage scan and association study of families with m.11778G>A in Thailand, two single nucleotide polymorphisms (SNPs) (rs3749446 and rs1402000) in the presenilins-associated rhomboid-like (PARL) gene were found to be associated with Leber hereditary optic neuropathy (LHON). In order to verify this association in Chinese LHON patients, we genotyped three PARL gene variants (rs3749446, rs953419, and rs1402000) in 179 patients with m.11778G>A and 170 patients with suspected LHON, and compared them to a control population containing the HapMap Chinese and 58 normal individuals analyzed in this study. We identified no association between these PARL gene SNPs and LHON in Chinese patients with m.11778G>A (P>0.05). Haplotype analysis also showed no statistical difference among the three Chinese populations.
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