A single nucleotide polymorphism analysis of the LAMA1 gene in Japanese patients with high myopia

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Abstract

Although a myopia susceptibility gene has not yet been elucidated, ten candidate regions (MYP1–MYP10) have been associated with myopia by linkage analysis employing large pedigrees. We report herein on the results of our analysis pertaining to polymorphisms of LAMA1 (alpha subunit of laminin), a promising candidate gene for high myopia present in the MYP2 region of Japanese subjects with high myopia. Three hundred and thirty Japanese subjects with high myopia at a level of greater than −9.25 D and ethnically and sex matched 330 normal controls without high myopia was enrolled in this study. The thirteen SNPs located on the LAMA1 gene were analyzed using PCR and SNP-specific fluorogenic probes. Two of the SNPs were monomorphic and none of the 11 SNPs showed statistically significant association with high myopia in the Japanese population. There is no convincing evidence to prove a connection between nucleotide sequence variations in LAMA1 and high myopia. The pairwise linkage disequilibrium (LD) mapping disclosed a strong value (D' > 0.8) and narrow ranged block within these SNPs.

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Refractive error in children in a rural population in India.

Lalit Dandona, Shyam M. Srinivas, Saggam Narsaiah … (2002)

To assess the prevalence of refractive error and related visual impairment in school-aged children in the rural population of the Mahabubnagar district in the southern Indian state of Andhra Pradesh. Random selection of village-based clusters was used to identify a sample of children 7 to 15 years of age. From April 2000 through February 2001, children in the 25 selected clusters were enumerated in a door-to-door survey and examined at a rural eye center in the district. The examination included visual acuity measurements, ocular motility evaluation, retinoscopy and autorefraction under cycloplegia, and examination of the anterior segment, media, and fundus. Myopia was defined as spherical equivalent refractive error of at least -0.50 D and hyperopia as +2.00 D or more. Children with reduced vision and a sample of those with normal vision underwent independent replicate examinations for quality assurance in seven clusters. A total of 4414 children from 4876 households was enumerated, and 4074 (92.3%) were examined. The prevalence of uncorrected, baseline (presenting), and best corrected visual acuity of 20/40 or worse in the better eye was 2.7%, 2.6%, and 0.78%, respectively. Refractive error was the cause in 61% of eyes with vision impairment, amblyopia in 12%, other causes in 15%, and unexplained causes in the remaining 13%. A gradual shift toward less-positive values of refractive error occurred with increasing age in both boys and girls. Myopia in one or both eyes was present in 4.1% of the children. Myopia risk was associated with female gender and having a father with a higher level of schooling. Higher risk of myopia in children of older age was of borderline statistical significance (P = 0.069). Hyperopia in at least one eye was present in 0.8% of children, with no significant predictors. Refractive error was the main cause of visual impairment in children aged between 7 and 15 years in rural India. There was a benefit of spectacles in 70% of those who had visual acuity of 20/40 or worse in the better eye at baseline examination. Because visual impairment can have a significant impact on a child's life in terms of education and development, it is important that effective strategies be developed to eliminate this easily treated cause of visual impairment.

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Genes and environment in refractive error: the twin eye study.

H Snieder, June Spector, Christopher J. Hammond … (2001)

A classical twin study was performed to examine the relative importance of genes and environment in refractive error. Refractive error was examined in 226 monozygotic (MZ) and 280 dizygotic (DZ) twin pairs aged 49 to 79 years (mean age, 62.4 years). Using a Humphrey-670 automatic refractor, continuous measures of spherical equivalent, total astigmatism, and corneal astigmatism were recorded. Univariate and bivariate maximum likelihood model fitting was used to estimate genetic and environmental variance components using information from both eyes. For the continuous spectrum of myopia/hyperopia, a model specifying additive genetic and unique environmental factors showed the best fit to the data, yielding a heritability of 84% to 86% (95% confidence interval [CI], 81%-89%). If myopia and hyperopia ( or = 0.5 D, respectively) were treated as binary traits, the heritability was 90% (95% CI, 81%-95%) for myopia and 89% (95% CI, 81%-94%) for hyperopia. For total and corneal astigmatism, modeling showed dominant genetic effects are important; dominant genetic effects accounted for 47% to 49% of the variance of total astigmatism (95% CI, 37%-55%) and 42% to 61% of corneal astigmatism variance (95% CI, 8%-71%), with additive genetic factors accounting for 1% to 4% and 4% to 18%, respectively (95% CIs, 0%-13% and 0%-60%, respectively). Genetic effects are of major importance in myopia/hyperopia; astigmatism appears to be dominantly inherited.

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Nearwork in early-onset myopia.

Seang-Mei Saw, Wei-Han Chua, Ching-Ye Hong … (2002)

To determine the relationship of nearwork and myopia in young elementary school-age children in Singapore. A cross-sectional study of 1005 school children aged 7 to 9 years was conducted in two schools in Singapore. Cycloplegic autorefraction, keratometry, and biometry measurements were performed. In addition, the parents completed a detailed questionnaire on nearwork activity (books read per week, reading in hours per day and diopter hours [addition of three times reading, two times computer use, and two times video games use in hours per day]). Other risk factors, such as parental myopia, socioeconomic status, and light exposure history, were assessed. In addition to socioeconomic factors, several nearwork indices were associated with myopia in these young children. The multivariate adjusted odds ratio of higher myopia (at least -3.0 D) for children who read more than two books per week was 3.05 (95% confidence interval [CI], 1.80-5.18). However, the odds ratios of higher myopia for children who read more than 2 hours per day or with more than 8 diopter hours (1.50; 95% CI, 0.87-2.55 and 1.04; 95% CI, 0.61-1.78, respectively) were not significant, after controlling for several factors. Children aged 7 to 9 years with a greater current reading exposure were more likely to be myopic. This association of reading and myopia in a young age cohort was greater than the strength of the reading association generally found in older myopic subjects. Whether these results identify an association of early-onset myopia with nearwork activity or other potentially confounding factors is discussed.

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Author and article information

Journal

Journal ID (nlm-ta): Clin Ophthalmol

Journal ID (publisher-id): Clinical Ophthalmology

Title: Clinical ophthalmology (Auckland, N.Z.)

Publisher: Dove Medical Press

ISSN (Print): 1177-5467

ISSN (Electronic): 1177-5483

Publication date (Print): September 2007

Volume: 1

Issue: 3

Pages: 289-295

Affiliations

[1 ]Department of Ophthalmology, Yokohama City University School of Medicine;

[2 ]Department of Legal Medicine, Shinsyu University School of Medicine, Matsumoto, Nagano, Japan;

[3 ]Okada Eye Clinic, Yokohama, Kanagawa, Japan;

[4 ]Department of Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan;

[5 ]Laboratory of Ophthalmology and Visual Science, Catholic Research Institutes of Medical Science College of Medicine, The Catholic University of Korea, Seoul, Korea;

[6 ]Department of Pharmacy, Shinsayu University Hospital, Matsumoto, Nagano, Japan;

[7 ]Department of Ophthalmology, Hokkaido University School of Medicine, Sapporo, Hokkaido, Japan

Author notes

Correspondence: Nobuhisa Mizuki, Department of Ophthalmology, Yokohama City University School of Medicine, 3-9 Fukuura, Kanazawa, Yokohama 236-0004 Japan, Tel +81 578 72683, Fax +81 578 19755, Email mizunobu@ 123456med.yokohama.cu.jp

Article

Publisher ID: opth-1-289

PMC ID: 2701124

PubMed ID: 19668483

SO-VID: 017409c7-1e60-4653-badd-a39eeac776b2

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A single nucleotide polymorphism analysis of the LAMA1 gene in Japanese patients with high myopia

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Most cited references 32

Refractive error in children in a rural population in India.

Genes and environment in refractive error: the twin eye study.

Nearwork in early-onset myopia.

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Cited by 3

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