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Table 2 Distribution of LOXL1 sequence variants in PXF patients, POAG patients and Controls

From: DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity

   Genotype Frequency (%) Allele Frequency (%)  
rs1048661 (R141L) N TT TG GG P_value T G P_value OR G/T (95%CI)
PXF 199 6 (3.0) 56 (28.1) 137 (68.9) 0.011 68 (17.1) 330 (82.9) 0.005 1.90 (1.23, 2.93)
PXF (Glaucoma) 141 2 (1.4) 41 (29.1) 98 (69.5) 0.0028 45 (16.0) 237 (84.0) 0.0031 2.06 (1.29, 3.30)
PXF (No Glaucoma) 58 4 (6.9) 15 (25.9) 39 (67.2) 0.36 23 (19.8) 93 (80.2) 0.12 1.58 (0.89, 2.80)
POAG 304 29 (9.5) 110 (36.2) 165 (54.3) 0.84 168 (27.6) 440 (72.4) 0.92 1.02 (0.70, 1.51)
Controls 80 9 (11.3) 27 (33.7) 44 (55.0)   45 (28.1) 115 (71.9)   
rs3825942 (G153D) N AA AG GG P_value A G P_value OR G/A (95%CI)
PXF 206 1 (0.5) 3 (1.5) 202 (98.0) 1.2 × 10-12 5 (1.2) 407 (98.8) 1.6 × 10-15 20.93 (8.06,54.39)
PXF (Glaucoma) 146 0 (0.0) 3 (2.1) 143 (97.9) 7.3 × 10-11 3 (1.0) 298 (99.0) 1.3 × 10-13 24.77 (7.50, 81.83)
PXF (No Glaucoma) 60 1 (1.7) 0 (0.0) 59 (98.3) 1.4 × 10-6 2 (1.7) 118 (98.3) 2.7 × 10-7 15.17 (3.58, 64.34)
POAG 325 17 (5.2) 115 (35.4) 193 (59.4) 0.044 149 (22.9) 501 (77.1) 0.54 0.86 (0.57, 1.30)
Controls 88 8 (9.1) 20 (22.7) 60 (68.2)   36 (20.5) 140 (79.5)   
rs2165241 (intron) N CC CT TT P_value C T P_value OR T/C (95%CI)
PXF 200 12 (6.0) 72 (36.0) 116 (58.0) 5.0 × 10-10 96 (24.0) 304 (76.0) 1.2 × 10-11 3.77 (2.56, 5.55)
PXF (Glaucoma) 143 7 (4.9) 54 (37.8) 82 (57.3) 2.1 × 10-9 68 (23.8) 218 (76.2) 1.5 × 10-10 3.82 (2.53,5.78)
PXF (No Glaucoma) 57 5 (8.8) 18 (31.6) 34 (59.7) 4.0 × 10-5 28 (24.6) 86 (75.4) 1.0 × 10-6 3.66 (2.16, 6.21)
POAG 323 116 (35.9) 148 (45.8) 59 (18.3) 0.40 380 (58.8) 266 (41.2) 0.33 0.83 (0.59, 1.18)
Controls 80 27 (33.7) 33 (41.3) 20 (25.0)   87 (54.4) 73 (45.6)   
  1. P values and OR are calculated when compared to controls. Association analyses were performed using SAS statistical software (version 9.1.3; SAS Institute, Cary, NC). Fisher's exact test was used to compare allele or genotype frequencies of PXF or POAG patients with controls. The confidence intervals (CIs) for ORs were calculated by the logit method. Hardy-Weinberg equilibrium was tested by chi-square test.