Table 2.
Association analysis of rs7044343 with RA in the discovery population
| Characteristic ( n ) |
Allele frequency (%) |
Genotype frequency (%) |
T versus C |
CC versus TT + TC |
CC + TC versus TT |
|||
|---|---|---|---|---|---|---|---|---|
| T | C | TT | TC | CC |
OR (95% CI) |
OR (95% CI) |
OR (95% CI) |
|
| P value | P value | P value | ||||||
| Control (598) |
545 (45.6) |
651 (54.4) |
137 (22.9) |
271 (45.3) |
190 (31.8) |
|
|
|
| RA (700) |
641 (45.8) |
759 (54.2) |
127 (18.1) |
387 (55.3) |
186 (26.6) |
1.009 |
0.777 |
1.354 |
| (0.864-1.178) |
(0.611-0.988) |
(1.033-1.774) |
||||||
| 0.912 |
0.040* |
0.028* |
||||||
| RF + (418) |
377 (45.1) |
459 (54.9) |
78 (18.7) |
221 (52.9) |
119 (28.5) |
0.981 |
0.855 |
1.308 |
| (0.822-1.172) |
(0.650-1.123) |
(0.958-1.785) |
||||||
| 0.833 |
0.260 |
0.091 |
||||||
| RF- (94) |
86 (45.7) |
102 (54.3) |
17 (18.1) |
52 (55.3) |
25 (26.6) |
1.007 |
0.778 |
1.359 |
| (0.740-1.371) |
(0.477-1.269) |
(0.777-2.376) |
||||||
| 0.964 |
0.314 |
0.282 |
||||||
| ACP (300) |
281 (46.8) |
319 (53.2) |
62 (20.7) |
157 (52.3) |
81 (27.0) |
1.052 |
0.794 |
1.152 |
| (0.864-1.281) |
(0.584-1.080) |
(0.821-1.615) |
||||||
| 0.612 |
0.142 |
0.413 |
||||||
| ACPA - (113) |
108 (47.8) |
118 (52.2) |
20 (17.7) |
68 (60.2) |
25 (22.1) |
1.093 |
0.610 |
1.395 |
| (0.822-1.453) |
(0.379-0.982) |
(0.830-2.345) |
||||||
| 0.539 |
0.042* |
0.209 |
||||||
| Female control (465) |
432 (46.5) |
498 (53.5) |
106 (22.8) |
220 (47.3) |
139 (29.9) |
|
|
|
| Female RA (482) |
426 (44.2) |
538 (55.8) |
85 (17.6) |
256 (53.1) |
141 (29.3) |
0.913 |
0.970 |
1.396 |
| (0.762-1.094) |
(0.734-1.282) |
(1.015-1.920) |
||||||
| 0.323 |
0.829 |
0.040 |
||||||
| Female RF+ (333) |
300 (45.0) |
366 (55.0) |
62 (18.6) |
176 (52.9) |
95 (28.5) |
0.945 |
0.936 |
1.306 |
| (0.774-1.154) |
(0.687-1.276) |
(0.920-1.855) |
||||||
| 0.578 |
0.676 |
0.135 |
||||||
| Female RF- (75) |
64 (42.7) |
86 (57.3) |
12 (16.0) |
40 (53.3) |
23 (30.7) |
0.858 |
1.037 |
1.569 |
| (0.606-1.215) |
(0.611-1.761) |
(0.816-3.018) |
||||||
| 0.388 |
0.892 |
0.177 |
||||||
| Female ACPA+ (243) |
225 (46.3) |
261 (53.7) |
50 (20.6) |
125 (51.4) |
68 (28.0) |
0.994 |
0.911 |
1.154 |
| (0.798-1.238) |
(0.647-1.285) |
(0.790-1.685) |
||||||
| |
|
|
0.956 |
0.596 |
0.459 |
|||
| Female ACPA- (84) |
77 (45.8) |
91 (54.2) |
15 (17.9) |
47 (56.0) |
22 (26.2) |
0.975 |
0.832 |
1.375 |
| (0.701-1.356) |
(0.492-1.407) |
(0.756-2.502) |
||||||
| 0.882 |
0.493 |
0.297 |
||||||
| Male CON (105) |
99 (47.1) |
111 (52.9) |
26 (24.8) |
47 (44.8) |
32 (30.5) |
|
|
|
| Male RA (121) |
116 (47.9) |
126 (52.1) |
24 (19.8) |
68 (56.2) |
29 (24.0) |
1.032 |
0.719 |
1.330 |
| (0.713-1.495) |
(0.399-1.296) |
(0.709-2.496) |
||||||
| 0.867 |
0.272 |
0.374 |
||||||
| Male RF+ (84) |
75 (44.6) |
93 (55.4) |
15 (17.9) |
45 (53.6) |
24 (28.6) |
0.904 |
0.913 |
1.514 |
| (0.602-1.359) |
(0.486-1.713) |
(0.742-3.088) |
||||||
| 0.628 |
0.776 |
0.254 |
||||||
| Male RF- (19) |
22 (57.9) |
16 (42.1) |
5 (26.3) |
12 (63.2) |
2 (10.5) |
1.542 |
0.268 |
0.922 |
| (0.767-3.100) |
(0.059-1.231) |
(0.303-2.805) |
||||||
| 0.222 |
0.090 |
0.886 |
||||||
| Male ACPA+ (57) |
56 (49.1) |
58 (50.9) |
12 (21.1) |
32 (56.1) |
13 (22.8) |
1.083 |
0.674 |
1.234 |
| (0.686-1.709) |
(0.320-1.420) |
(0.568-2.681) |
||||||
| 0.733 |
0.300 |
0.595 |
||||||
| Male ACPA- (27) | 29 (53.7) | 25 (46.3) | 5 (18.5) | 19 (70.4) | 3 (11.1) | 1.301 |
0.285 |
1.448 |
| (0.714-2.369) |
(0.080-1.016) |
(0.498-4.211) |
||||||
| 0.390 | 0.053 | 0.497 | ||||||
*P < 0.05 versus controls; ACPAs, anti-citrullinated proteins antibodies; CI, confidence interval.
CON, healthy control; OR, odds ratio; RA, rheumatoid arthritis; RF, rheumatoid factor.