Genetic prediction of myopia: prospects and challenges

Guggenheim, Jeremy A.; Mojarrad, Neema Ghorbani; Williams, Cathy; Flitcroft, Daniel Ian

doi:10.1111/opo.12403

Cited by 14 publications

(13 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The issue of prediction has recently been discussed in detail . As expected, genetic predictive accuracy depends on SNP‐heritability (see figure of that paper).…”

Section: What Have We Learned From Genetic Studies Of Myopia?mentioning

confidence: 78%

Myopia: is the nature‐nurture debate finally over?

Morgan

Rose

2019

Clinical and Experimental Optometry

View full text Add to dashboard Cite

In the nineteenth century, the prevalence of myopia began to rise, and Cohn stressed the role of education. Later, based on twin studies, Sorsby argued that refraction was almost totally genetically determined. This became the dominant view. However, rapid increases in the prevalence of myopia were then reported, especially in East and Southeast Asia, where the prevalence of myopia in children completing secondary school is now 80-90 per cent, with around 20 per cent highly myopic, and at risk of ocular pathology. It is not possible to explain these rapid changes genetically, since gene pools cannot change that fast. Nevertheless, there are at least 200 genetic forms of myopia, but these account for myopia in only a low percentage of the population. Genome-wide association studies have identified over 150 single-nucleotide polymorphisms (SNPs) associated with myopia, but they account for < 10 per cent of the variation in refraction. In contrast, twin studies have given consistently high heritability estimates for myopia. The high twin study heritability may be explained by the limited environmental variation within twin pairs, combined with basic assumptions made in twin studies. The SNP-heritability approach suggests that 25-35 per cent of the variation may be accounted for by hundreds or even thousands of SNPs. The apparent conflicts in the literature can be explained by the aetiological heterogeneity of myopia, and the fact that estimates of heritability are population-specific. It has been proposed that environmental variation is more relevant to variations between populations; however, the current differences between populations are due to changes within populations, driven by educational pressures, and limited time spent outdoors. Ethnic differences in myopia and the effects of parental myopia now seem more likely to be explained by environmental influences. Genetic studies have not yet defined molecular pathways and preventive interventions, and the predictive power of current genetic data is limited.

show abstract

“…The issue of prediction has recently been discussed in detail . As expected, genetic predictive accuracy depends on SNP‐heritability (see figure of that paper).…”

Section: What Have We Learned From Genetic Studies Of Myopia?mentioning

confidence: 78%

Myopia: is the nature‐nurture debate finally over?

Morgan

Rose

2019

Clinical and Experimental Optometry

View full text Add to dashboard Cite

show abstract

“…Simulations have indicated that commonly-occurring genetic variants explain approximately 35% of the variance in refractive error (the so-called "SNP heritability") and that, theoretically, genetic prediction accuracy is capable of attaining this level or more. 18,41 The reason for the poor performance of the genetic risk score was likely due to (1) the omission of many risk variants with significant effects on susceptibility to refractive error and/or (2) using imprecisely-estimated effect sizes for the 149 variants that were included. Both of these limitations could be improved by conducting a GWAS for refractive error in a larger sample than the 160 420 individuals studied by CREAM and 23andMe.…”

Section: Discussionmentioning

confidence: 99%

“…syndromic myopia, the effects are not typical for the majority of the myopic population. As such, much attention in the research literature has been to the relative importance of genes vs environment, with a growing consensus that myopia is predominantly caused by a combination of both genetic and environmental factors …”

Section: Introductionmentioning

confidence: 99%

A genetic risk score and number of myopic parents independently predict myopia

Mojarrad

Williams

Guggenheim

2018

Ophthalmic Physiologic Optic

Self Cite

View full text Add to dashboard Cite

show abstract

“…The authors attempted to incorporate genetic risk using the number of myopic parents as an additional factor in their predictive model-this conferred no significant benefit over the use of refractive error at baseline alone. However, as Guggenheim et al argue in a recent review, parental myopia is only a good predictor of offspring's risk of myopia on average and therefore unlikely to predict which particular child will fall into the extremes of refractive error (32).…”

Section: The Utility Of Genetic Knowledgementioning

confidence: 99%