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Myopia Genetics-The Asia-Pacific Perspective.

Shi Song Rong1, Li Jia Chen, Chi Pui Pang

  • 1From the *Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, Kowloon, Hong Kong; and †Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA.

Asia-Pacific Journal of Ophthalmology (Philadelphia, Pa.)
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Summary

High myopia is a leading cause of vision loss globally, driven by genetic and environmental factors. This review compares myopia-associated gene variant frequencies across diverse ethnic groups, focusing on the Asia-Pacific region.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Population Health

Background:

  • Myopia, particularly high myopia, is a significant global health concern, leading to severe visual impairment and blinding conditions like retinal detachment and choroidal neovascularization.
  • The etiology of myopia is multifactorial, involving a complex interplay between genetic predispositions and environmental influences.
  • Genetic research has identified over 20 myopia-associated loci, with findings evolving from linkage analyses to genome-wide association studies and exome sequencing.

Purpose of the Study:

  • To review and compare the allelic frequencies of known myopia-associated gene variants.
  • To focus on ethnic variations in gene variant frequencies, with a particular emphasis on the Asia-Pacific region.
  • To provide insights into the genetic underpinnings of myopia prevalence disparities across different populations.

Main Methods:

  • Systematic review of genetic association studies for myopia.
  • Analysis of data from family linkage studies, candidate gene studies, genome-wide association studies (GWAS), and exome sequencing.
  • Comparative analysis of allelic frequencies of identified myopia risk variants in various ethnic groups.

Main Results:

  • Numerous myopia-associated genetic loci and variants have been identified across all chromosomes.
  • Replication of genetic associations varies across different geographic and ethnic populations.
  • Asian populations, including Japanese, Korean, and Chinese, exhibit a significantly higher prevalence of myopia and high myopia compared to White populations.

Conclusions:

  • Genetic and environmental factors contribute to ethnic variations in myopia prevalence.
  • Understanding the allelic frequencies of myopia-associated genes in diverse populations is crucial for targeted interventions.
  • Further research is needed to elucidate the specific genetic and environmental interactions driving myopia in different ethnic groups, especially in the Asia-Pacific region.