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      AC and AG dinucleotide repeats in the PAX6 P1 promoter are associated with high myopia

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          Abstract

          Purpose

          The PAX6 gene, located at the reported myopia locus MYP7 on chromosome 11p13, was postulated to be associated with myopia development. This study investigated the association of PAX6 with high myopia in 379 high myopia patients and 349 controls.

          Methods

          High myopia patients had refractive errors of –6.00 diopters or greater and axial length longer than 26 mm. Control subjects had refractive errors less than –1.00 diopter and axial length shorter than 24 mm. The P1 promoter, all coding sequences, and adjacent splice-site regions of the PAX6 gene were screened in all study subjects by polymerase chain reaction and direct sequencing. PAX6 P1 promoter-luciferase constructs with variable AC and AG repeat lengths were prepared and transfected into human ARPE-19 cells prior to assaying for their transcriptional activities.

          Results

          No sequence alterations in the coding or splicing regions showed an association with high myopia. Two dinucleotide repeats, (AC) m and (AG) n, in the P1 promoter region were found to be highly polymorphic and significantly associated with high myopia. Higher repeat numbers were observed in high myopia patients for both (AC) m (empirical p = 0.013) and (AG) n (empirical p = 0.012) dinucleotide polymorphisms, with a 1.327-fold increased risk associated with the (AG) n repeat (empirical p = 0.016; 95% confidence interval: 1.059–1.663). Luciferase-reporter analysis showed elevated transcription activity with increasing individual (AC) m and (AG) n and combined (AC) m(AG) n repeat lengths.

          Conclusions

          Our results revealed an association between high myopia and AC and AG dinucleotide repeat lengths in the PAX6 P1 promoter, indicating the involvement of PAX6 in the pathogenesis of high myopia.

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          Most cited references85

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          Mouse small eye results from mutations in a paired-like homeobox-containing gene.

          R Hill, J Favor, B Hogan … (1991)
          Small eye (Sey) in mouse is a semidominant mutation which in the homozygous condition results in the complete lack of eyes and nasal primordia. On the basis of comparative mapping studies and on phenotypic similarities, Sey has been suggested to be homologous to congenital aniridia (lack of iris) in human. A candidate gene for the aniridia (AN) locus at 11p13 has been isolated by positional cloning and its sequence and that of the mouse homologue has been established (C.T., manuscript in preparation). This gene belongs to the paired-like class of developmental genes first described in Drosophila which contain two highly conserved motifs, the paired box and the homeobox. In vertebrates, genes which encode the single paired domain as well as those which express both motifs have been described as the Pax multigene family. A Pax gene recently described as Pax-6 is identical to the mouse homologue of the candidate aniridia gene. Here we report the analysis of three independent Sey alleles and show that indeed this gene is mutated and that the mutations would predictably interrupt gene function.
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            Parental myopia, near work, school achievement, and children's refractive error.

            Helen Jones, M Moeschberger, Karla Zadnik … (2002)
            To quantify the degree of association between juvenile myopia and parental myopia, near work, and school achievement. Refractive error, parental refractive status, current level of near activities (assumed working distance-weighted hours per week spent studying, reading for pleasure, watching television, playing video games or working on the computer), hours per week spent playing sports, and level of school achievement (scores on the Iowa Tests of Basic Skills [ITBS]) were assessed in 366 eighth grade children who participated in the Orinda Longitudinal Study of Myopia in 1991 to 1996. Children with myopia were more likely to have parents with myopia; to spend significantly more time studying, more time reading, and less time playing sports; and to score higher on the ITBS Reading and Total Language subtests than emmetropic children (chi(2) and Wilcoxon rank-sum tests; P < 0.024). Multivariate logistic regression models showed no substantial confounding effects between parental myopia, near work, sports activity, and school achievement, suggesting that each factor has an independent association with myopia. The multivariate odds ratio (95% confidence interval) for two compared with no parents with myopia was 6.40 (2.17-18.87) and was 1.020 (1.008-1.032) for each diopter-hour per week of near work. Interactions between parental myopia and near work were not significant (P = 0.67), indicating no increase in the risk associated with near work with an increasing number of parents with myopia. Heredity was the most important factor associated with juvenile myopia, with smaller independent contributions from more near work, higher school achievement, and less time in sports activity. There was no evidence that children inherit a myopigenic environment or a susceptibility to the effects of near work from their parents.
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              Prevalence and risk factors for refractive errors in adult Chinese in Singapore.

              T. Y. Wong, P Foster, J Hee … (2000)
              To determine the epidemiology of refractive errors in an adult Chinese population in Singapore. A disproportionate, stratified, clustered, random-sampling procedure was used to select names of 2000 Chinese people aged 40 to 79 years from the 1996 Singapore electoral register in the Tanjong Pagar district in Singapore. These people were invited to a centralized clinic for a comprehensive eye examination, including refraction. Refraction was also performed on nonrespondents in their homes. Myopia, high myopia, and hyperopia were defined as a spherical equivalent (SE) in the right eye of less than -0.5 D, less than -5.0 D, and more than +0.5 D, respectively. Astigmatism was defined as less than -0.5 D of cylinder. Anisometropia was defined as a difference in SE of more than 1.0 D between the two eyes. Only phakic eyes were analyzed. From 1717 eligible people, 1232 (71.8%) were examined. Adjusted to the 1997 Singapore population, the overall prevalence of myopia, hyperopia, astigmatism, and anisometropia was 38.7% (95% confidence interval [CI]: 35.5, 42.1), 28.4% (95% CI: 25.3, 31.3), 37.8% (95% CI: 34.6, 41.1), and 15.9% (95% CI: 13.5, 18.4), respectively. The prevalence of high myopia was 9.1% (95% CI: 7.2, 11.2), with women having significantly higher rates than men. The age pattern of myopia was bimodal, with higher prevalence in the 40 to 49 and 70 to 81 age groups and lower prevalence between those age ranges. Prevalence was reversed in hyperopia, with a higher prevalence in subjects aged 50 to 69. There was a monotonic increase in prevalence with age for both astigmatism and anisometropia. Increasing educational levels, higher individual income, professional or office-related occupations, better housing, and greater severity of nuclear opacity were all significantly associated with higher rates of myopia, after adjustment for age and sex. The results indicate that whereas myopia is 1.5 to 2.5 times more prevalent in adult Chinese residing in Singapore than in similarly aged European-derived populations in the United States and Australia, the sociodemographic associations are similar.
              Article 0 comments Cited 133 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Mol Vis
                Journal ID (publisher-id): MV
                Title: Molecular Vision
                Publisher: Molecular Vision
                ISSN (Electronic): 1090-0535
                Publication date Collection: 2009
                Publication date (Electronic): 05 November 2009
                Volume: 15
                Pages: 2239-2248
                Affiliations
                [1 ]Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong S.A.R.
                [2 ]Present affiliation: Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA
                Author notes

                The first two authors contributed equally to this work.

                Correspondence to: Prof. C.P. Pang, Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, University Eye Center, Hong Kong Eye Hospital, 147K Argyle Street, Kowloon, Hong Kong; Phone: +852 27623129; FAX: +852 27159490; email: cppang@ 123456cuhk.edu.hk
                Article
                Publisher ID: 241 Publisher ID: 2009MOLVIS0283
                PMC ID: 2774452
                PubMed ID: 19907666
                SO-VID: 951bc588-dd4d-466f-bdb9-8f13403ac7a5
                Copyright statement: Copyright @ 2009
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 10 August 2009
                Date accepted : 27 October 2009
                Categories
                Subject: Research Article
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                ScienceOpen disciplines: Vision sciences
                Data availability:
                ScienceOpen disciplines: Vision sciences

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