Refractive errors were measured at P35 age when refractive errors stabilize in mice using automated infrared photorefractor. Further work will be required to pinpoint the causal variant s at the APLP2 locus that determine susceptibility to myopia, and to elucidate whether as suggested by the location of the most strongly associated variant in the promoter region of the gene they alter the level of APLP2 expression.
Get Permissions. Human genetic mapping studies have identified over 24 chromosomal loci linked to myopia [ 15 , 25 — 30 ].
It was carried out by assigning subjects a new phenotype, sampled randomly without replacement from the true list of phenotypes, and repeating the tests for association between the new trait and the genotype for all SNPs in the region. Wallman J, Winawer J 2004 Homeostasis of eye growth and the question of myopia. The emmetropization process is regulated by a vision-driven feedback loop in the retina and downstream signaling cascades in other ocular tissues, and normally results in sharp vision emmetropia.
Mohamed Dirani, Sri N.
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 author and source are credited Data Availability: Arrows identify APLP2 , which was found to be overexpressed in myopia, suppressed in hyperopia, had strong positive association with myopic phenotype and was negatively correlated with hyperopia ranking metric score -0.
A large cohort of Australian male and female twins over a broad age range was used in the GEM twin study. Furthermore, Aplp2 also strongly influenced refractive eye development and myopia susceptibility in the gene-targeted mouse model of myopia. Quantile-quantile plots B, D display expected log 10 P-values on the x-axis.
However, to date, there has been no other study to explore the potential influence of shared genetic and environmental effects on SE and AL. PLoS One 9: There has been a clear consensus that both genetic and environmental risk factors, such as near work, play a role in the development of myopia.
A Effect of targeted deletion of Aplp2 on refractive eye development in the mouse.
D Effect of targeted deletion of Aplp2 on contrast sensitivity in mice. View Table. S1 Table. To explore the possibility of an interaction between APLP2 gene variants and visual experience, we exploited the availability of longitudinal refractive error measurements over childhood age range 8 to 15 years and prospective exposure information regarding the two most important currently known environmental risk factors for myopia, i.
Therefore, when the MZ intrapair correlation is more than double that of the DZ intrapair correlation, C would be estimated at 0. Segregation analysis of ocular refraction and myopia.
Fig 5. Previously, we reported that expression of APLP2 was strongly associated with myopia in a primate model. These findings provide significant insights into the etiology of refractive error, with the potential that AL and SE may share common genes. Partial coherence interferometry IOLMaster; Carl Zeiss Meditec, Oberkochen, Germany was used to obtain ocular measurements on axial length of the eye anteroposterior diameter. Nat Genet 5: Vis Neurosci 29: