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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.
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BMC Medical Genetics

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