Dataset Information

Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development.

ABSTRACT:

Purpose

To study the relatively high effect of the refractive error gene GJD2 in human myopia, and to assess its relationship with refractive error, ocular biometry and lifestyle in various age groups.

Methods

The population-based Rotterdam Study (RS), high myopia case-control study MYopia STudy, and the birth-cohort study Generation R were included in this study. Spherical equivalent (SER), axial length (AL), axial length/corneal radius (AL/CR), vitreous depth (VD), and anterior chamber depth (ACD) were measured using standard ophthalmologic procedures. Biometric measurements were compared between GJD2 (rs524952) genotype groups; education and environmental risk score (ERS) were calculated to estimate gene-environment interaction effects, using the Synergy index (SI).

Results

RS adults carrying two risk alleles had a lower SER and longer AL, ACD and VD (AA versus TT, 0.23D vs. 0.70D; 23.79 mm vs. 23.52 mm; 2.72 mm vs. 2.65 mm; 16.12 mm vs. 15.87 mm; all P < 0.001). Children carrying two risk alleles had larger AL/CR at ages 6 and 9 years (2.88 vs. 2.87 and 3.00 vs. 2.96; all P < 0.001). Education and ERS both negatively influenced myopia and the biometric outcomes, but gene-environment interactions did not reach statistical significance (SI 1.25 [95% confidence interval {CI}, 0.85-1.85] and 1.17 [95% CI, 0.55-2.50] in adults and children).

Conclusions

The elongation of the eye caused by the GJD2 risk genotype follows a dose-response pattern already visible at the age of 6 years. These early effects are an example of how a common myopia gene may drive myopia.

SUBMITTER: Haarman AEG

PROVIDER: S-EPMC8375003 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature

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Publications

Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development.

Haarman Annechien E G AEG Enthoven Clair A CA Tedja Milly S MS Polling Jan R JR Tideman J Willem L JWL Keunen Jan E E JEE Boon Camiel J F CJF Felix Janine F JF Raat H H Geerards Annette J M AJM Luyten Gregorius P M GPM van Rijn Gwyneth A GA Verhoeven Virginie J M VJM Klaver Caroline C W CCW

Investigative ophthalmology & visual science 20210801 10

<h4>Purpose</h4>To study the relatively high effect of the refractive error gene GJD2 in human myopia, and to assess its relationship with refractive error, ocular biometry and lifestyle in various age groups.<h4>Methods</h4>The population-based Rotterdam Study (RS), high myopia case-control study MYopia STudy, and the birth-cohort study Generation R were included in this study. Spherical equivalent (SER), axial length (AL), axial length/corneal radius (AL/CR), vitreous depth (VD), and anterior ...[more]

PMID: 34406332

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Dataset Information

Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development.

Purpose

Methods

Results

Conclusions

Publications

Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development.

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