Nature and nurture: the complex genetics of myopia and refractive error

Wojciechowski, Robert

doi:10.1111/j.1399-0004.2010.01592.x

Cited by 272 publications

(247 citation statements)

References 173 publications

(219 reference statements)

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“…A number of previous studies have extensively examined the impact of genetic effects on myopia in humans (44)(45)(46). The analysis of genes involved in the scleral extracellular matrix (ECM) is a common feature of studies on syndromic high myopia (47).…”

Section: Discussionmentioning

confidence: 99%

Association between parental myopia and the risk of myopia in a child

Zhang

Zhou

2015

Experimental and Therapeutic Medicine

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Abstract. The association between parental myopia and a child's risk of developing the condition is not well understood. Therefore, the present study conducted a meta-analysis of the results of observational studies in order to investigate the association between myopia in parents and their child's risk of developing the condition. The current study systematically examined the databases MEDLINE, Embase and Ovid for relevant studies. Two reviewers independently evaluated the data and extracted the odds ratios (ORs) and 95% confidence intervals (CIs) from the suitable studies. Heterogeneity, publication bias and subgroup analyses were performed. The present meta-analysis included 31,677 participants from 16 studies with 8,393 cases of myopia (six prospective cohort, eight cross-sectional and two case-control studies). The OR of giving birth to a child with myopia, according to the prospective cohort, cross-sectional and case-control studies, was 1.53 (95% CI, 1.21-1.85), 1.96 (95% CI, 1.53-2.39), and 2.13 (95% CI, 1.79-2.46), respectively, when one parent had myopia, and 2.10 (95% CI, 1.42-2.77), 2.96 (95% CI, 2.21-3.71), and 2.13 (95% CI, 1.79-2.46), respectively, when two parents had myopia. The current study identified a significant positive association between parental myopia and a child's risk of developing myopia. Children of two parents with myopia had a higher risk of developing myopia compared to those with one myopic parent.

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Section: Discussionmentioning

confidence: 99%

Association between parental myopia and the risk of myopia in a child

Zhang

Zhou

2015

Experimental and Therapeutic Medicine

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“…Myopia often exhibits apparent familial aggregation (10)(11)(12), and the number of myopic parents is significantly correlated with myopic onset and progression in children (13). Twin studies and population-based epidemiological investigations show that genetic factors significantly contribute to the development of myopia (6,14,15), particularly HM (5). Genomewide association studies (GWAS) and subsequent metaanalyses have identified dozens of loci and genes that are associated with general myopia or HM (16,17).…”

mentioning

confidence: 99%

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia

Jin

Huang

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

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The etiology of the highly myopic condition has been unclear for decades. We investigated the genetic contributions to early-onset high myopia (EOHM), which is defined as having a refraction of less than or equal to −6 diopters before the age of 6, when children are less likely to be exposed to high educational pressures. Trios (two nonmyopic parents and one child) were examined to uncover pathogenic mutations using whole-exome sequencing. We identified parent-transmitted biallelic mutations or de novo mutations in asyet-unknown or reported genes in 16 probands. Interestingly, an increased rate of de novo mutations was identified in the EOHM patients. Among the newly identified candidate genes, a BSG mutation was identified in one EOHM proband. Expanded screening of 1,040 patients found an additional four mutations in the same gene. Then, we generated Bsg mutant mice to further elucidate the functional impact of this gene and observed typical myopic phenotypes, including an elongated axial length. Using a trio-based exonic screening study in EOHM, we deciphered a prominent role for de novo mutations in EOHM patients without myopic parents. The discovery of a disease gene, BSG, provides insights into myopic development and its etiology, which expands our current understanding of high myopia and might be useful for future treatment and prevention.early-onset high myopia | de novo mutations | BSG | rare inherited mutations

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“…This group includes genes that encode matrix metalloproteinases (MMP1, MMP2, MMP3, and MMP9), growth factors and growth factor receptors (HGF, TGFB1, TGFB2, and MET), collagens (COL1A1 and COL2A1), and proteoglycans (LUM) (see Wojciechowski 80 for summary).…”

Section: Refractive Errormentioning

confidence: 99%

Genome-wide association studies: applications and insights gained in Ophthalmology

Chandra

Mitry

Wright

et al. 2014

Eye

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Genome-wide association studies (GWAS) use high-throughput genotyping technologies to genotype thousands of single-nucleotide polymorphisms (SNPs) and relate them to the development of clinical and quantitative traits. Their use has been highly successful in the field of ophthalmology, and since the advent of GWAS in 2005, many genes not previously suspected of having a role in disease have been identified and the findings replicated. We conducted an extensive literature review and describe the concept, design, advantages, and limitations of GWAS and provide a detailed description of the applications and discoveries of GWAS in the field of eye disease to date. There have been many novel findings revealing previously unknown biological insights in a diverse range of common ocular conditions. GWAS have been a highly successful modality for investigating the pathogenesis of a wide variety of ophthalmic conditions. The insights gained into the pathogenesis of disease provide not only a better understanding of underlying disease mechanism but also offer a rationale for targeted treatment and preventative strategies. Expansive international collaboration and standardised phenotyping will permit the continued success of this investigative technique.

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Nature and nurture: the complex genetics of myopia and refractive error

Cited by 272 publications

References 173 publications

Association between parental myopia and the risk of myopia in a child

Association between parental myopia and the risk of myopia in a child

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia

Genome-wide association studies: applications and insights gained in Ophthalmology

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