Table 1.
Genotype and allele distribution of PTPN22 rs2476601, rs33996649 and CSK rs1378942, rs34933034 in Spanish biopsy-proven GCA patients and healthy controls.
| Genotype, N (%) |
Allele test |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| SNP | Locus | 1/2 | Subgroup (N) | 1/1 | 1/2 | 2/2 | MAF (%) | P-value* | P FDR ** | OR [CI 95%]*** |
| rs2476601 | PTPN22 | A/G | Controls (n=1729) | 13 (0.75) | 200 (11.57) | 1516 (87.68) | 6.54 | |||
| GCA (n=623) | 4 (0.64) | 119 (19.10) | 500 (80.26) | 10.19 | 2.66E-05 | 1.06E-04 | 1.62 [1.29-2.04] | |||
| PMR+ (n=259) | 2 (0.77) | 53 (20.46) | 204 (78.76) | 11.00 | 2.26E-04 | 9.02E-04 | 1.77 [1.30-2.40] | |||
| VIM+ (n=168) | 1 (0.60) | 36 (21.43) | 131 (77.98) | 11.31 | 1.03E-03 | 4.10E-03 | 1.82 [1.27-2.62] | |||
| IOD+ (n=96) | 2 (2.08) | 21 (21.88) | 73 (76.04) | 13.02 | 5.47E-04 | 2.19E-03 | 2.14 [1.38-3.33] | |||
|
| ||||||||||
| rs33996649 | PTPN22 | T/C | Controls (n=1729) | 4 (0.23) | 110 (6.36) | 1615 (93.41) | 3.41 | |||
| GCA (n=623) | 1 (0.16) | 39 (6.26) | 583 (93.58) | 3.29 | 0.838 | 0.919 | 0.96 [0.67-1.38] | |||
| PMR+ (n=259) | 0 (0.00) | 12 (4.63) | 247 (95.37) | 2.32 | 0.191 | 0.382 | 0.67 [0.37-1.23] | |||
| VIM+ (n=168) | 0 (0.00) | 12 (7.14) | 156 (92.86) | 3.57 | 0.878 | 0.878 | 1.05 [0.57-1.92] | |||
| IOD+ (n=96) | 0 (0.00) | 6 (6.25) | 90 (93.75) | 3.13 | 0.831 | 0.831 | 0.91 [0.40-2.10] | |||
|
| ||||||||||
| rs1378942 | CSK | C/A | Controls (n=1729) | 281 (16.25) | 798 (46.15) | 650 (37.59) | 39.33 | |||
| GCA (n=623) | 129 (20.71) | 230 (36.92) | 264 (42.38) | 39.17 | 0.919 | 0.919 | 0.99 [0.87-1.13] | |||
| PMR+ (n=259) | 55 (21.24) | 99 (38.22) | 105 (40.54) | 40.35 | 0.658 | 0.756 | 1.04 [0.86-1.26] | |||
| VIM+ (n=168) | 34 (20.24) | 69 (41.07) | 65 (38.69) | 40.77 | 0.605 | 0.807 | 1.06 [0.85-1.33] | |||
| IOD+ (n=96) | 20 (20.83) | 39 (40.63) | 37 (38.54) | 41.15 | 0.616 | 0.822 | 1.08 [0.80-1.45] | |||
|
| ||||||||||
| rs34933034 | CSK | A/G | Controls (n=1729) | 72 (4.16) | 537 (31.06) | 1120 (64.78) | 19.69 | |||
| GCA (n=623) | 21 (3.37) | 176 (28.25) | 426 (68.38) | 17.50 | 0.091 | 0.182 | 0.86 [0.73-1.02] | |||
| PMR+ (n=259) | 10 (3.86) | 79 (30.50) | 170 (65.64) | 19.11 | 0.756 | 0.756 | 0.96 [0.76-1.22] | |||
| VIM+ (n=168) | 7 (4.17) | 47 (27.98) | 114 (67.86) | 18.15 | 0.497 | 0.807 | 0.90 [0.68-1.21] | |||
| IOD+ (n=96) | 5 (5.21) | 24 (25.00) | 67 (69.79) | 17.71 | 0.500 | 0.822 | 0.88 [0.60-1.28] | |||
*
All P-values have been calculated for the allelic model.
**
Benjamini and Hochberg step-up false discovery rate control.
***
Odds ratio for the minor allele.
MAF, minor allele frequency; GCA, giant cell arteritis; PMR, polymyalgia rheumatica; VIM, visual ischemic manifestations; IOD, irreversible occlusive disease