Purchase this article with an account.
Shu Min Tang, Li Ma, Pancy O.S. Tam, Chi Pui Pang, Jason CS Yam, Li Jia Chen; Association of the PAX6 Gene with High and Extreme Myopia. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):2931.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
In a recent meta-analysis study we identified suggestive association of the PAX6 gene with high and extreme myopia in Asians. In this study, we investigated the association of PAX6 with high and extreme myopia using haplotype-tagging single-nucleotide polymorphisms (SNPs).
This study involved 350 subjects with high myopia (spherical equivalence (SE) <-6D and axial length (AL) >26mm), among which 214 subjects were with extreme myopia (SE≤-10D and AL>28mm), and 420 controls (SE>-1D and AL<24mm). We genotyped 7 SNPs in PAX6, including 5 tagging SNPs, namely rs3026390, rs3026354, rs2071754, and rs628224, and three SNPs, rs662702, rs3026393 and rs644242, which had been associated with high myopia. The data was analyzed separately and meta-analyzed with previous data.
SNPs rs644242 (odds ratio (OR)=0.78, 95% CI: 0.61-0.99; p=0.049) and rs3026390 (OR=1.23, 95% CI: 1.01-1.51; p=0.043) were associated with high myopia. In extreme myopia, the ORs for rs644242 and rs3026390 were 0.75 (95% CI: 0.56-1.00; p=0.050) and 1.29 (95% CI: 1.02-1.63; p=0.034), respectively. In the meta-analysis including present data, rs644242 was associated with high myopia in the dominant model (OR=0.85, 95% CI: 0.76-0.96; p=0.010) and heterozygous model (OR=0.85, 95% CI: 0.75-0.96; p=0.009); whilst in extreme myopia, rs644242 showed significant association in the allelic model (OR=0.79, 95% CI: 0.68-0.92; p=0.002), dominant model (OR=0.79, 95% CI: 0.63-0.95; p=0.010) and heterozygous model (OR=0.78, 95% CI: 0.66-0.93; p=0.006).
Results of the present study consolidate the findings in our previous meta-analysis, providing new support to PAX6 as a susceptibility gene for high and extreme myopia.
This PDF is available to Subscribers Only