Laboratory Study
Eye (2008) 22, 576–581; doi:10.1038/sj.eye.6702982; published online 19 October 2007
A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia
Y-Y Tsai1, C-C Chiang1,2, H-J Lin1,3,4, J-M Lin1, L Wan3 and F-J Tsai3,5
- 1Department of Ophthalmology, China Medical University Hospital, Taichung, Taiwan
- 2Department of College of Medicine, Institute of Medical and Molecular Toxicology, Chung Shan Medical University, Taichung, Taiwan
- 3Department of Medical Genetics and Pediatrics, China Medical University Hospital, Taichung, Taiwan
- 4Department of Life Science, Tunghai University, Taichung, Taiwan
- 5Department of College of Chinese Medicine, Graduate Institute of Chinese Medical Science, China Medical University Hospital, Taichung, Taiwan
Correspondence: L Wan, Department of Medical Genetics and Pediatrics, China Medical University Hospital, No. 2, Yuh Der Road, Taichung 404, Taiwan; C-C Chiang, Department of Ophthalmology, China Medical University Hospital, No. 2, Yuh Der Road, Taichung 404, Taiwan. Tel: +886 4 22052121 ext. 1141; Fax: +886 4 22052121 1139; E-mail: elsa10019@yahoo.com.tw
Received 14 March 2007; Revised 15 August 2007; Accepted 15 August 2007; Published online 19 October 2007.
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 - 6.0 D with a control group (n=85) whose spherical equivalent was less than - 0.5 D. 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 - 10 D) 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.
Keywords:
PAX6, polymorphism, extreme myopia, high myopia, SNP, homeobox gene
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