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Table 4 Genotypes of the Keratoconus and Control Groups Determined in This Study

From: Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482

dbSNP identification number and related gene

Genotype

Number of subjects with the corresponding genotype, (%)

Chi-squared test p-value

Keratoconus group

Main control group

Additional control group

Keratoconus group

Main control group

Additional control group

rs1536482 (near COL5A1 gene)

A/A

24 (16.0)

16 (7.8)

42 (8.4)

0.7860

0.9580

0.5653

G/A

70 (46.7)

82 (40.0)

207 (41.2)

G/G

56 (37.3)

107 (52.2)

225 (44.8)

rs2721051 (near FOXO1 gene)

T/T

2 (1.3)

1 (0.5)

4 (0.8)

0.8824

0.7061

0.3739

C/T

33 (22.0)

22 (10.7)

63 (12.5)

C/C

115 (76.7)

182 (88.8)

407 (80.9)

rs1324183 (near the MPDZ gene)

A/A

0 (0.0)

11 (5.4)

17 (3.7)a

0.1795

0.2216

0.0480

A/C

23 (15.3)

60 (29.3)

111 (24.0)a

C/C

127 (84.7)

134 (65.3)

334 (72.3)a

  1. a imputed frequency