A review of current approaches to identifying human genes involved in myopia: Invited Review

Wing Chun Tang, Keng Hung Maurice Yap, Shea Ping Yip

Research output: Journal article publicationJournal articleAcademic researchpeer-review

61 Citations (Scopus)


The prevalence of myopia is high in many parts of the world, particularly among the Orientals such as Chinese and Japanese. Like other complex diseases such as diabetes and hypertension, myopia is likely to be caused by both genetic and environmental factors, and possibly their interactions. Owing to multiple genes with small effects, genetic heterogeneity and phenotypic complexity, the study of the genetics of myopia poses a complex challenge. This paper reviews the current approaches to the genetic analysis of complex diseases and how these can be applied to the identification of genes that predispose humans to myopia. These approaches include parametric linkage analysis, non-parametric linkage analysis like allele-sharing methods and genetic association studies. Basic concepts, advantages and disadvantages of these approaches are discussed and explained using examples from the literature on myopia. Microsatellites and single nucleotide polymorphisms are common genetic markers in the human genome and are indispensable tools for gene mapping. High throughput genotyping of millions of such markers has become feasible and efficient with recent technological advances. In turn, this makes the identification of myopia susceptibility genes a reality.
Original languageEnglish
Pages (from-to)4-22
Number of pages19
JournalClinical and Experimental Optometry
Issue number1
Publication statusPublished - 1 Jan 2008


  • Genetics
  • Linkage
  • Linkage disequilibrium
  • Myopia
  • Polymorphism

ASJC Scopus subject areas

  • Ophthalmology
  • Optometry


Dive into the research topics of 'A review of current approaches to identifying human genes involved in myopia: Invited Review'. Together they form a unique fingerprint.

Cite this