Table 2. Genotype and minor allele frequencies of IRF5 genetic variants in uveitis patients and healthy controls.
Genotype, N (%)
|
Allele test
|
||||||||
---|---|---|---|---|---|---|---|---|---|
SNP | 1/2 | Subgroup (N) | 1/1 | 1/2 | 2/2 | MAF (%) | P-value* | PFDR** | OR [CI 95%]*** |
rs2004640 a | G/T | Controls (n=723) | 135 (18.67) | 356 (49.24) | 232 (32.09) | 43.29 | |||
Uveitis (n=258) | 58 (22.48) | 132 (51.16) | 68 (26.36) | 48.06 | 0.0613 | 0.0919 | 1.21 [0.99-1.48] | ||
With edema (n=119) | 25 (21.01) | 54 (45.38) | 40 (33.61) | 43.70 | 0.9068 | 0.9068 | 1.02 [0.77-1.34] | ||
Without edema (n=134) | 32 (23.88) | 78 (58.21) | 24 (17.91) | 52.99 | 3.38E-03 | 5.07E-03 | 1.48 [1.14-1.92] | ||
rs2070197 b | C/T | Controls (n=723) | 9 (1.24) | 113 (15.63) | 601 (83.13) | 9.06 | |||
Uveitis (n=261) | 1 (0.38) | 35 (13.41) | 225 (86.21) | 7.09 | 0.1671 | 0.1671 | 0.77 [0.52-1.12] | ||
With edema (n=120) | 0 (0.00) | 17 (14.17) | 103 (85.83) | 7.08 | 0.3164 | 0.9068 | 0.77 [0.45-1.29] | ||
Without edema (n=136) | 1 (0.74) | 17 (12.50) | 118 (86.76) | 6.99 | 0.2662 | 0.2662 | 0.75 [0.46-1.24] | ||
rs10954213 c | G/A | Controls (n=723) | 88 (12.17) | 323 (44.67) | 312 (43.15) | 34.51 | |||
Uveitis (n=261) | 48 (18.39) | 112 (42.91) | 101 (38.70) | 39.85 | 0.0293 | 0.0880 | 1.26 [1.02-1.55] | ||
With edema (n=120) | 19 (15.83) | 47 (39.17) | 54 (45.00) | 35.42 | 0.7843 | 0.9068 | 1.04 [0.78-1.39] | ||
Without edema (n=136) | 29 (21.32) | 64 (47.06) | 43 (31.62) | 44.85 | 1.12E-03 | 3.37E-03 | 1.54 [1.19-2.01] |
* All P-values have been calculated for the allelic model. ** Benjamini & Hochberg (1995) step-up FDR control. *** Odds ratio for the minor allele.
a Uveitis with edema vs. uveitis without edema: P= 0.037, OR (CI 95%)=0.69 (0.48-0.98); b Uveitis with edema vs. uveitis without edema: P=0.966, OR (CI 95%)=1.02 (0.52-2.00); c Uveitis with edema vs. uveitis without edema: P = 0.030, OR (CI 95%)=0.67 (0.47-0.96);