Table 3 of Aragon-Martin, Mol Vis 2008; 14:533-541.
Phenotype | LOXL1 SNPs | rs1048661 (R141L) | rs3825942 (G153D) | rs2165241 | |||
GG/GT/TT | G/T | GG/GA/AA | G/A | CC/CT/TT | C/T | ||
XFO (n=95) | Counts | 62/32/0 | 156/32 | 79/15/0 | 173/15 | 4/43/46 | 51/135 |
Frequency | 0.660/0.340/0.0 | 0.830/0.170 | 0.840/0.160/0.0 | 0.920/0.080 | 0.043/0.462/0.495 | 0.274/0.726 | |
p-Value | 1.37x10-3 | 5.44x10-4 | 9.18x10-4 | 1.01x10-4 | 5.99x10-11 | 2.30x10−11 | |
XFG (n=133) | Counts | 95/35/2 | 225/39 | 128/4/0 | 260/4 | 9/47/76 | 65/199 |
Frequency | 0.720/0.265/0.015 | 0.852/0.148 | 0.970/0.030/0.0 | 0.985/0.015 | 0.068/0.356/0.576 | 0.246/0.754 | |
p-Value | 1.49x10-5 | 2.53x10-6 | 1.21x10-11 | 5.59x10-13 | 4.83x10−17 | 4.17x10-17 | |
XFU (n=59) | Counts | 40/16/1 | 96/18 | 53/4/0 | 110/4 | 3/29/27 | 35/83 |
Frequency | 0.702/0.280/0.018 | 0.842/0.158 | 0.930/0.070/0.0 | 0.965/0.035 | 0.051/0.491/0.458 | 0.297/0.703 | |
p-Value | 8.39x10-3 | 2.17x10-3 | 1.25x10-4 | 1.67x10-5 | 8.24x10-7 | 3.28x10-7 | |
XFS (n=287) | Counts | 197/83/3 | 477/89 | 260/23/0 | 543/23 | 16/119/149 | 151/417 |
Frequency | 0.696/0.293/0.011 | 0.843/0.157 | 0.919/0.081/0.0 | 0.959/0.041 | 0.056/0.419/0.525 | 0.266/0.734 | |
p-Value | 2.85x10-8 | 7.74x10-9 | 7.44x10-15 | 3.10x10-17 | 1.24x10-22 | 4.85x10-24 | |
Controls (n=333) | Counts | 162/140/28 | 464/196 | 216/98/18 | 530/134 | 94/174/60 | 362/294 |
Frequency | 0.491/0.424/0.085 | 0.703/0.297 | 0.651/0.295/0.054 | 0.798/0.202 | 0.287/0.530/0.183 | 0.552/0.448 |