Table 2. Allelic and genotype frequencies of PTPN22 genetic variants in overall uveitis patients, uveitis patients stratified according to the anatomic classification and healthy
controls from Spanish population.
SNP |
Subgroup (n) |
GG |
GA |
AA |
MAF (%) |
Allelic P -value |
OR (95% CI) |
rs2476601 |
Controls (n=721) |
628 (87.10) |
89 (12.34) |
4 (0.55) |
110 (6.75) |
|
|
|
Uveitis (n=215) |
186 (86.51) |
28 (13.02) |
1 (0.47) |
30 (6.98) |
0.86 |
1.04 (0.68–1.59) |
|
IU (n=37) |
30 (81.08) |
7 (19.92) |
0 (0.00) |
7 (9.46) |
0.36 |
1.45 (0.65–3.24) |
|
PU (n=104) |
88 (84.62) |
16 (15.38) |
0 (0.00) |
16 (7.69) |
0.61 |
1.16 (0.67–2.00) |
|
PAN (n=56) |
52 (92.86) |
3 (5.36) |
1 (1.78) |
5 (4.46) |
0.35 |
0.65 (0.26–1.63) |
SNP |
Subgroup (n) |
CC |
CT |
TT |
MAF (%) |
Allelic P -value |
OR (95% CI) |
rs33996649 |
Controls (n=718) |
668 (93.04) |
49 (6.82) |
1 (0.14) |
51 (3.55) |
|
|
|
Uveitis (n=217) |
202 (93.09) |
15 (6.91) |
0 (0.00) |
15 (3.46) |
0.92 |
0.97 (0.54–1.75) |
|
IU (n=38) |
37 (97.37) |
1 (2.63) |
0 (0.00) |
1 (1.31) |
0.3 |
0.36 (0.05–2.66) |
|
PU (n=104) |
95 (91.35) |
9 (8.65) |
0 (0.00) |
9 (4.33) |
0.58 |
1.23 (0.60–2.53) |
|
PAN (n=56) |
52 (92.86) |
4 (7.14) |
0 (0.00) |
4 (3.57) |
0.99 |
1.01 (0.36–2.84) |