Abstract:
PURPOSE:Myopia is a common complex trait that affects up to 60% of some populations. Its development is influenced by multiple genes and environmental factors. PAX6 and SOX2 are genes with fundamental roles in ocular growth and development, and they have been linked with myopia in a recent linkage study. The authors investigated the roles of PAX6 and SOX2 in common myopia as part of a broader association study of refractive error. METHODS:Five hundred ninety-six persons from the 1958 British Birth Cohort, a nationally representative population, were randomly selected from the outer tertiles of the refractive error (RE) distribution and were genotyped using 25 tagSNPs across PAX6 and 3 tagSNPs across SOX2 and their putative control regions. This experiment had 80% power to exclude either gene contributing more than 10% of the variance of refractive error. RESULTS:All SNPs were in Hardy-Weinberg equilibrium, and the genotyping failure rate was less than 5%. Accounting for multiple testing, no significant association (P < 0.05) was found between any of the SNPs or haplotypes and refractive error. CONCLUSIONS:PAX6 and SOX2 are obvious candidates in RE genetic studies because of their biological roles and prior linkage studies. The present findings strongly suggest refractive error is not directly affected in this population by variants in either gene or by their known promoters/enhancers. The authors suggest that neither PAX6 nor SOX2 should be prioritized in the international search for genetic modifiers of refractive error. Their findings contribute to broader understanding of the pathophysiology of refractive error and highlight the critical role of replication in genetic research on complex disorders.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Simpson CL,Hysi P,Bhattacharya SS,Hammond CJ,Webster A,Peckham CS,Sham PC,Rahi JSdoi
10.1167/iovs.07-0231subject
Has Abstractpub_date
2007-10-01 00:00:00pages
4421-5issue
10eissn
0146-0404issn
1552-5783pii
48/10/4421journal_volume
48pub_type
杂志文章abstract:PURPOSE:Metabolism and transport of cysteine are critical for maintenance of the intracellular glutathione (GSH) level. In this study, transport mechanisms of L-cystine and regulation of GSH biosynthesis in the absence or presence of NO-induced oxidant stress were investigated in primary cultured rabbit conjunctival ep...
journal_title:Investigative ophthalmology & visual science
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abstract:PURPOSE:Vision restoration is a fast-approaching reality for some people with profound vision loss. In order to reliably determine treatment efficacy, accurate assessment of baseline residual visual function is critical. The purpose of this study was to compare residual function as detected on Goldman visual field (GVF...
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journal_title:Investigative ophthalmology & visual science
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abstract:PURPOSE:To assess whether saccadic eye movements show distinct changes in patients with early active Graves' ophthalmopathy (GO), which could serve as a diagnostic tool for early detection and treatment. METHODS:Each of two prospective studies included 10 patients with early acute GO and 10 age- and sex-matched contro...
journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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abstract::In the tree shrew retina individual rod and cone photoreceptors can be readily identified and quantified because their perikarya are arranged in a single layer. This retina is therefore an ideal system for testing the specificity of photoreceptor-directed antibodies. Here we describe the staining properties of polyclo...
journal_title:Investigative ophthalmology & visual science
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doi:
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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doi:
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journal_title:Investigative ophthalmology & visual science
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doi:
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