ArticleMolecular vision2012
Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility.
Article in Molecular vision, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China.Molecular genetics and genomics : MGG · 2023Article
- Myopia Genetics and Heredity.Children (Basel, Switzerland) · 2022Review
- IMI - Report on Experimental Models of Emmetropization and Myopia.Investigative ophthalmology & visual science · 2019Review
- Evaluation ofEye and vision (London, England) · 2019Article
- Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of theCell & bioscience · 2019Article
- INVOLVEMENT OF MULTIPLE MOLECULAR PATHWAYS IN THE GENETICS OF OCULAR REFRACTION AND MYOPIA.Retina (Philadelphia, Pa.) · 2018Review
- Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients.Scientific reports · 2017Article
- Insight into the molecular genetics of myopia.Molecular vision · 2017Review
- Implication of NOTCH1 gene in susceptibility to anxiety and depression among sexual abuse victims.Translational psychiatry · 2016Article
- Association of ZNF644, GRM6, and CTNND2 genes with high myopia in the Han Chinese population: Jiangsu Eye Study.Eye (London, England) · 2016Article
- Association between SCO2 mutation and extreme myopia in Japanese patients.Japanese journal of ophthalmology · 2016Article
- Oxidative stress in myopia.Oxidative medicine and cellular longevity · 2015Review
- New ZNF644 mutations identified in patients with high myopia.Molecular vision · 2014Article
- Advances in the genomics of common eye diseases.Human molecular genetics · 2013Review
- Genetic susceptibility and mechanisms for refractive error.Clinical genetics · 2013Review
- Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.American journal of human genetics · 2013Article
- Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
purposeMyopia, or nearsightedness, is highly prevalent in Asian countries and is considered a serious public health issue globally. High-grade myopia can predispose individuals to myopic maculopathy, premature cataracts, retinal detachment, and glaucoma. A recent study implicated zinc finger protein 644 isoform 1 (ZNF644) variants with non-syndromic high-grade myopia in a Chinese-Asian population. Herein we focused on investigating the role for ZNF644 variants in high-grade myopia in a United States (US) cohort.
methodsDNA from a case cohort of 131 subject participants diagnosed with high-grade myopia was screened for ZNF644 variants. Spherical refractive error of -≤-6.00 diopters (D) in at least one eye was defined as affected. All coding, intron/exon boundaries were screened using Sanger sequencing. Single nucleotide allele frequencies were determined by screening 672 ethnically matched controls.
resultsSequencing analysis did not detect previously reported mutations. However, our analysis identified 2 novel single nucleotide variants (c.725C>T, c.821A>T) in 2 high-grade myopia individuals- one Caucasian and one African American, respectively. These variants were not found in normal controls. A rare variant - dbsSNP132 (rs12117237→c.2119A>G) - with a minor allele frequency of 0.2% was present in 6 additional cases, but was also present in 5 controls.
conclusionsOur study has identified two novel variants in ZNF644 associated with high-grade myopia in a US cohort. Our results suggest that ZNF644 may play a role in myopia development.
Indexed as
Identifiers
22539872PMC3335780W1511574524What 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.