A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia

Y. Y. Tsai, C. C. Chiang, H. J. Lin, J. M. Lin, Lei Wan, Fuu-Jen Tsai

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Purpose: The PAX6 gene is a homeobox gene involved in oculogenesis, ocular growth, and form-deprivation myopia. Our aim was to determine whether PAX6polymorphism at position -12 of intron 9 (IVS9-12C to T, rs667773) is associated with high myopia in Chinese Taiwanese. Methods: This case-control study compared a study group (n = 188) with high myopia whose spherical equivalent was greater than -6.0D with a control group (n = 85) whose spherical equivalent was less than -0.5D. Genotyping of IVS9-12C to T was conducted by restriction fragment length polymorphism analysis, and results were compared for the two groups. Results: No significant difference in genotype and allelic frequency at this position between the study and control groups was detected. However, there was a significantly higher frequency of the CC genotype in extremely myopic (greater than -10D) patients (P < 0.001, odds ratio (OR = 5.265), confidence interval (CI = 2.0342-13.626)). Furthermore, there was a higher frequency of the C allele in the extreme myopia group than in the control group (P = 0.002, OR = 3.73, CI = 1.57-8.81). Conclusions: The elevated frequency of the CC genotype within the extreme myopia group indicated that the CC genotype could act as a genetic marker, identifying patients predisposed to develop extreme myopia. Varied expression of this genotype may contribute to the genetic predisposition to high myopia in Chinese Taiwanese.

Original languageEnglish (US)
Pages (from-to)576-581
Number of pages6
JournalEye
Volume22
Issue number4
DOIs
StatePublished - Jan 1 2008

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Myopia
Genetic Predisposition to Disease
Genotype
Genes
Control Groups
Homeobox Genes
Genetic Markers
Gene Frequency
Restriction Fragment Length Polymorphisms
Introns
Case-Control Studies
Odds Ratio
Confidence Intervals
Growth

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems

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A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia. / Tsai, Y. Y.; Chiang, C. C.; Lin, H. J.; Lin, J. M.; Wan, Lei; Tsai, Fuu-Jen.

In: Eye, Vol. 22, No. 4, 01.01.2008, p. 576-581.

Research output: Contribution to journalArticle

Tsai, Y. Y. ; Chiang, C. C. ; Lin, H. J. ; Lin, J. M. ; Wan, Lei ; Tsai, Fuu-Jen. / A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia. In: Eye. 2008 ; Vol. 22, No. 4. pp. 576-581.
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