ArticleMolecular vision2010
Identification of a locus for autosomal dominant high myopia on chromosome 5p13.3-p15.1 in a Chinese family.
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, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Association of 5p15.2 and 15q14 with high myopia in Tujia and Miao Chinese populations.BMC ophthalmology · 2020Pooled it
- A Review of Current Concepts of the Etiology and Treatment of Myopia.Eye & contact lens · 2018Pooled it
- Myopia Genetics and Heredity.Children (Basel, Switzerland) · 2022Review
- Pathogenesis and Prevention of Worsening Axial Elongation in Pathological Myopia.Clinical ophthalmology (Auckland, N.Z.) · 2020Review
- Low prevalence of myopia among school children in rural China.BMC ophthalmology · 2018Article
- Myopia in Chinese families shows linkage to 10q26.13.Molecular vision · 2018Observational
- Exome Sequence Analysis of 14 Families With High Myopia.Investigative ophthalmology & visual science · 2017Article
- Association and interaction of myopia with SNP markers rs13382811 and rs6469937 atMolecular vision · 2017Article
- Insight into the molecular genetics of myopia.Molecular vision · 2017Review
- Analysis of the association between theClinical ophthalmology (Auckland, N.Z.) · 2016Article
- APLP2 Regulates Refractive Error and Myopia Development in Mice and Humans.PLoS genetics · 2015Article
- Genetic association study between INSULIN pathway related genes and high myopia in a Han Chinese population.Molecular biology reports · 2015Article
- Evaluation of MYOC, ACAN, HGF, and MET as candidate genes for high myopia in a Han Chinese population.Genetic testing and molecular biomarkers · 2014Article
- Exome sequencing reveals CCDC111 mutation associated with high myopia.Human genetics · 2013Article
- Genetic factors for choroidal neovascularization associated with high myopia.Investigative ophthalmology & visual science · 2012Article
- Association of markers at chromosome 15q14 in Chinese patients with moderate to high myopia.Molecular vision · 2012Article
- IGF-1 gene polymorphisms in Polish families with high-grade myopia.Molecular vision · 2011Article
- An association study of the COL1A1 gene and high myopia in a Han Chinese population.Molecular vision · 2011Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMyopia and its extreme form, high myopia, are common vision disorders worldwide, especially in Asia. Identifying genetic markers is a useful step toward understanding the genetic basis of high myopia, particularly in the Chinese population, where it is highly prevalent. This study was conducted to provide evidence of linkage for autosomal dominant high myopia to a locus on chromosome 5p13.3-p15.1 in a large Chinese family.
methodsAfter clinical evaluation, genomic DNA from 29 members of this family was genotyped. A genome-wide screen was then performed using 382 markers with an average inter-marker distance of 10 cM, and two-point linkage was analyzed using the MLINK program. Mutation analysis of the candidate genes was performed using direct sequencing.
resultsLinkage to the known autosomal dominant high myopia loci was excluded. The genome-wide screening identified a maximum two-point LOD score of 3.71 at θ=0.00 with the microsatellite marker D5S502. Fine mapping and haplotype analysis defined a critical region of 11.69 cM between D5S2096 and D5S1986 on chromosome 5p13.3-p15.1. Sequence analysis of the candidate genes inside the linked region did not identify any causative mutations.
conclusionsA genetic locus was mapped to chromosome 5p13.3-p15.1 in a large Chinese family with autosomal dominant high myopia.
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Identifiers
21042559PMC2965568W1754102331What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.