Table 4 of Miyake, Mol Vis 2012; 18:2726-2735.

Table 4. Summary of previous reports that evaluated an association between PAX6 and high myopia.

Author (year) Definition of cases Cases Controls Reported single-nucleotide polymorphisms* Remarks
Criteria of high myopia Affected eye rs667773‡

rs644242
rs662702		 rs3026390

rs3026393
rs2071754		 rs3026354

rs628224
Tsai et al., 2008 SE<6 D Both 255 87 n.s. - - Significant association of AC- and AG-repeat
lengths in the P1 promoter
Ng et al., 2009 SE≤6 D - 379 349 n.s. - -
Han et al., 2009 SE<6 D Both FBAT† with 164
 nuclear family		 n.s. p=0.0011 n.s.
Significant association in haplotype analysis
Liang et al., 2011 SE≤6 D At least one eye 1083 1096 n.s. n.s. n.s.
Jiang et al., 2011 SE≤8 D Both 300 300 n.s. n.s. n.s.

SE≤8 D Both 299 299 - n.s. -
Current Study AL≥26 mm Both 1307 1256 p=0.0045 n.s. n.s.
Tsai et al., 2008 SE<10 D Both 67 87 p<0.001 - -
Liang et al., 2011 SEM≤11 D At least one eye 55 619 p=0.0074 n.s. n.s.
Current Study AL≥28 mm Both 810 1256 p=0.0165 n.s. n.s.

* Single-nucleotide polymorphism pairs with r2 ≧ 0.90 in HapMap Phase II are in the same column. † Family-based association test ‡ Although this single-nucleotide polymorphism is not included in HapMap SNP, it is reported to be in strong linkage disequilibrium (r2=0.92) with rs644242. D: diopter, n.s.: Not significant, SE: Spherical equivalent, AL: Axial length.

Miyake, Mol Vis 2012; 18:2726-2735. http://www.molvis.org/molvis/v18/a280

©2012 Molecular Vision http://www.molvis.org/molvis/

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