A genetic perspective on myopia

Jacobi, Felix K.; Zrenner, E.; Broghammer, Martina; Pusch, Carsten M.

doi:10.1007/s00018-004-4353-z

Cited by 36 publications

(27 citation statements)

References 65 publications

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“…Development of myopia predominantly results from dysfunction of eye growth cooperating by visual signals and outer coat of ocular globe membranes, sclera, choroids, and retina (20,30,32). In particular, it increases axial elongation and reduces tolerance for the intraocular pressure of the eye (33,34), which may cause irreversible injury to these membranes, increasing risk of high degrees of myopia.…”

Section: Discussionmentioning

confidence: 99%

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A novel genetic variant of BMP2K contributes to high myopia

Liu

Lin

et al. 2009

Clinical Laboratory Analysis

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Loss of eye growth regulation may cause myopia, because modulation of optic globe size is essential for the generation of normal optic power. Evidence has implied variations of BMP2 gene expression mediate ocular development and retinal tissue remodeling. Given BMP2 as a potential regulator involved in myopia development, we investigate whether gene BMP2-inducible kinase (BMP2K, BIKe), whose expression is up-regulated during BMP2-induced osteoblast differentiation, contributes to susceptibility of high myopia. Participants grouped into high myopia had a spherical equivalent greater than -6.00 D, compared with a control group of spherical equivalent less than -0.5 D. Genotyping of polymorphisms 1379 G/A (rs2288255) and 3171 C/G (rs12507099), corresponding with 405 Gly/Ser and 1002 Thr/Ser variation in the BMP2K gene were determined by PCR-restriction fragment length polymorphism and associative study performed by comparing high myopic subjects and healthy controls. The frequency of A allele in the BMP2K gene 1379 G/A polymorphism showed a significant difference between cases and controls (P<0.001, OR=2.99, 95% CI=1.62-5.54) and subjects with either AA or AG genotype show higher risk than GG genotype (P<0.001, OR=3.07, 95% CI=1.59-5.92), while 3171 C/G polymorphism was not significant from this survey. These data suggest that BMP2K gene 1379 G/A variant is strongly correlated with high myopia and may contribute to a genetic risk factor for high degrees of myopic pathogenesis.

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Section: Discussionmentioning

confidence: 99%

“…In search for regulated factors accounting for variation of eye size, BMP2 is a crucial candidate for retinal development and patterning (29,30). Our study evaluates whether a novel protein BMP2-inducible kinase (BMP2K, BIKe), whose expression is up-regulated during BMP2 induction (31), is correlated with high myopia.…”

Section: Introductionmentioning

confidence: 98%

A novel genetic variant of BMP2K contributes to high myopia

Liu

Lin

et al. 2009

Clinical Laboratory Analysis

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“…Previous studies indicate that genes responsive to visual signals are involved in the biological pathways of ocular growth. 7 The abnormality of sclera in highly myopic eyes of human and animal models is a result of changes in scleral extracellular matrix metabolism. 15 Therefore, we hypothesize that genes directly responsive to visual signals such as ZNF644, GRM6 and CTNND2 might functionally contribute to the development of high myopia.…”

Section: Discussionmentioning

confidence: 99%

“…A visually triggered signaling cascade from the retina ultimately guides the scleral remodeling that leads to eye growth. 7 The zinc-finger protein 644 gene (ZNF644) is a zinc-finger protein that functions as a transcriptional factor and is expressed in the retina. 8 The glutamate receptor metabotropic 6 gene (GRM6) is important in the function of the ON-bipolar cells, which is a major controller of dopamine release.…”

Section: Introductionmentioning

confidence: 99%

Association of ZNF644, GRM6, and CTNND2 genes with high myopia in the Han Chinese population: Jiangsu Eye Study

Wang

Yang

et al. 2016

Eye

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Aims High myopia is a common visual disorder in the world. The ZNF644, GRM6, and CTNND2 genes are expressed in the retina. This study aims to investigate the associations of these genes with high myopia in Han Chinese population. Methods The case-control association included high myopia cases (n = 430) and controls (n = 430) recruited from a populationbased study, 'Jiangsu Eye Study'. Fourteen single-nucleotide polymorphisms (SNPs) in three genes were genotyped by the TaqMan method using the real-time PCR system. Results Three SNPs GRM6-rs11746675, GRM6-rs2067011, and GRM6-rs2645339 were associated with high myopia (odds ratio (OR) = 0.74, P = 0.003; OR = 0.78, P = 0.018; and OR = 0.78, P = 0.023; respectively). The significances of rs2067011 and rs2645339 disappeared after multiple testing corrections. Rs11746675 remained significant after correction for multiple testing. The genetic model analysis found that GRM6-rs11746675 and GRM6-rs2067011 were suggestively associated with high myopia in the recessive model (OR = 0.54, P = 0.004; OR = 0.52, P = 0.003; respectively). Haplotype GAT for GRM6 markers rs2067011-rs2645339-rs762724 showed significance (P = 0.0239), but such association did not remain significant after multiple testing corrections. Conclusions Our data suggested that genetic variants in GRM6 are associated with high myopia. The mechanism of GRM6 in the development of high myopia need to be further investigated.

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“…The age-old question of the roles of nature and nurture in this process remain unanswered. Twin studies of segregation analysis and association studies have demonstrated that hereditary factors play an important role in myopia development [4][5][6][7] . The data suggest that environmental factors might also interact with genetic factors to increase the risks of developing myopia [8,9] .…”

Section: Introductionmentioning

confidence: 99%

Use of Fluorescence Fundus Angiography to Assess Variations in Retinal Circulation in Myopic Patients of Different Ages

et al. 2008

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To investigate the variation in retinal circulation in patients with different degrees of myopia and different age by fluorescence fundus angiography (FFA). Thirty myopic patients (60 eyes), 20–54 years of age, with various degrees of myopia were evaluated. All patients underwent fundus photography and FFA using a standard technique. Patients with other ophthalmologic diseases possibly affecting the retrobulbar circulation and those with a history of laser treatment or intraocular surgery were excluded. Vascular filling patterns at arterial phase, arterial-venous phase and venous phase were reviewed. The average filling times at each phase were significantly delayed in severe myopia, but there was no difference between eyes with mild and medium myopia. There was no statistically significant correlation between mean filling time and age. The findings indicated a significant correlation between the intraocular blood circulation and the degree of myopia.

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A genetic perspective on myopia

Cited by 36 publications

References 65 publications

A novel genetic variant of BMP2K contributes to high myopia

A novel genetic variant of BMP2K contributes to high myopia

Association of ZNF644, GRM6, and CTNND2 genes with high myopia in the Han Chinese population: Jiangsu Eye Study

Use of Fluorescence Fundus Angiography to Assess Variations in Retinal Circulation in Myopic Patients of Different Ages

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