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(Investigative Ophthalmology and Visual Science. 2008;49:49-54.)
© 2008 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.07-0896
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Assessment of TGIF as a Candidate Gene for Myopia

Kelly K. Pertile,1,2 Maria Schäche,1,2 F. M. Amirul Islam,1,2 Christine Y. Chen,1,2 Mohamed Dirani,1,2 Paul Mitchell,2,3 and Paul N. Baird1,2

1From the Centre for Eye Research Australia, Department of Ophthalmology University of Melbourne, East Melbourne, Victoria, Australia; the 2Vision Cooperative Research Centre, Sydney, Australia; and the 3Centre for Vision Research, Department of Ophthalmology, Westmead Millennium Institute, University of Sydney, Westmead, New South Wales, Australia.

PURPOSE. Transforming growth β-induced factor (TGIF) has been identified as a candidate gene for high myopia through genetic linkage studies and through its role in ocular growth in animal studies. However, the association of single nucleotide polymorphisms (SNPs), based solely on myopia refraction, has so far been inconclusive. This is the first study conducted to investigate the association of TGIF with refraction and ocular biometric measurements.

METHODS. Twelve tag SNPs (tSNPs) encompassing the TGIF gene and 2 kb upstream of its promoter region were used to evaluate the association between TGIF variants with both ocular biometric measures and refraction. A total of 257 cases of myopia (spherical equivalent [SE] worse than –0.50 D) and 294 control subjects (no myopia) were genotyped. Genotype frequencies were analyzed by {chi}2 test and one-way ANOVA.

RESULTS. Two tSNPs showed significant association with biometric measures, with the SNP rs8082866 being associated with both axial length (P = 0.013) and corneal curvature (P = 0.007) and the SNP rs2020436 being associated with corneal curvature (P = 0.022). However, these associations became nonsignificant after multiple testing (Bonferroni correction).

CONCLUSIONS. Findings of this study suggest that the TGIF gene is unlikely to play a major role in either ocular biometric measures or refraction in a Caucasian population. Future studies should focus on other genes in the MYP2 linkage region or other linked regions to identify myopia-causing genes.






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