Table 3.
Frequencies of alleles and genotypes of rs1805010, rs1801275 and rs2107356 in MG subgroups and controls [case (%)].
| Control | Male | Female | Anti-AchR Ab | Thymoma | |||||
|---|---|---|---|---|---|---|---|---|---|
| MG | control | MG | control | Positive | Negative | positive | negative | ||
| Number | 487 | 189 | 249 | 291 | 238 | 338 | 124 | 107 | 367 |
| Rs2107356 | 484* | 180 | 247 | 283 | 237 | 325 | 120 | 102 | 355 |
| CC | 200(41.3) | 66(36.7) | 105(42.5) | 108(38.2) | 95(40.1) | 122(37.5) | 44(36.7) | 31(30.4) | 141(39.7) |
| CT | 214(44.2) | 88(48.9) | 109(44.1) | 134(47.4) | 105(44.3) | 154(47.4) | 59(49.2) | 45(44.1) | 174(49.0) |
| TT | 70(14.5) | 26(14.4) | 33(13.4) | 41(14.5) | 37(15.6) | 49(15.1) | 17(14.2) | 26(25.5) | 40(11.3) |
| T allele | 0.37 | 0.39 | 0.35 | 0.38 | 0.38 | 0.39 | 0.39 | 0.48a | 0.36b |
| Rs1805010 | 487 | 186 | 249 | 289 | 238 | 334 | 124 | 106 | 363 |
| GG | 135(27.7) | 43(23.1) | 64(25.7) | 84(29.1) | 71(29.8) | 88(26.4) | 30(24.2) | 20(18.9) | 105(28.9) |
| GA | 233(47.8) | 91(48.9) | 125(50.2) | 131(45.3) | 108(45.4) | 161(48.2) | 53(42.7) | 45(42.5) | 175(48.2) |
| AA | 119(24.4) | 52(28.0) | 60(24.1) | 74(25.6) | 59(24.8) | 85(25.4) | 41(33.1) | 41(38.7) | 83(22.9) |
| A allele | 0.48 | 0.52 | 0.49 | 0.48 | 0.47 | 0.5 | 0.54 | 0.6c | 0.47d |
| Rs1801275 | 487 | 183 | 249 | 288 | 238 | 331 | 122 | 104 | 361 |
| AA | 348(71.5) | 108(59.0) | 175(70.3) | 197(68.4) | 173(72.7) | 202(61.0) | 87(71.3) | 66(63.5) | 236(65.4) |
| AG | 131(26.9) | 68(37.2) | 69(27.7) | 88(30.6) | 62(26.1) | 120(36.3) | 34(27.9) | 36(34.6) | 117(32.4) |
| GG | 8(1.6) | 7(3.8) | 5(2.0) | 3(1.0) | 3(1.3) | 9(2.7) | 1(0.8) | 2(1.9) | 8(2.2) |
| G allele | 0.15 | 0.22 | 0.16 | 0.16 | 0.14 | 0.21e | 0.15 | 0.19 | 0.18 |
| Control | Onset age (year) | Onset involvement | Oosterhuis score | ||||||
| <15 | 15–50 | >50 | Ocular | Generalized | 0–2 | 3–5 | |||
| Number | 487 | 71 | 253 | 156 | 342 | 135 | 216 | 154 | |
| Rs2107356 | 484 | 68 | 247 | 148 | 330 | 130 | 209 | 149 | |
| CC | 200(41.3) | 29(42.6) | 93(37.7) | 52(35.1) | 126(38.2) | 47(36.1) | 81(38.8) | 62(40.3) | |
| CT | 214(44.2) | 32(47.1) | 113(45.7) | 77(52.0) | 160(48.5) | 60(46.1) | 103(49.3) | 65(43.6) | |
| TT | 70(14.5) | 7(10.3) | 41(16.6) | 19(12.8) | 44(13.3) | 23(17.7) | 25(12.0) | 24(16.1) | |
| T allele | 0.37 | 0.34 | 0.39 | 0.39 | 0.38 | 0.41 | 0.37 | 0.38 | |
| Rs1805010 | 487 | 70 | 252 | 153 | 337 | 135 | 216 | 152 | |
| GG | 135(27.7) | 21(30.0) | 69(27.4) | 37(24.2) | 88(26.1) | 39(28.9) | 56(25.9) | 45(29.6) | |
| GA | 233(47.8) | 27(38.6) | 109(43.2) | 86(56.2) | 161(48.4) | 57(42.2) | 100(46.3) | 74(48.7) | |
| AA | 119(24.4) | 22(31.4) | 74(29.4) | 30(19.6) | 86(25.5) | 39(28.9) | 60(27.8) | 33(21.7) | |
| A allele | 0.48 | 0.51 | 0.51 | 0.48 | 0.5 | 0.5 | 0.51 | 0.46 | |
| Rs1801275 | 487 | 69 | 252 | 150 | 337 | 131 | 214 | 152 | |
| AA | 348(71.5) | 51(73.9) | 163(64.7) | 91(60.7) | 216(64.1) | 88(67.2) | 141(65.9) | 98(65.1) | |
| AG | 131(26.9) | 17(24.6) | 83(32.9) | 56(37.3) | 114(33.8) | 40(30.5) | 70(32.7) | 49(32.2) | |
| GG | 8(1.6) | 1(1.4) | 6(2.4) | 3(2.0) | 7(2.1) | 3(2.3) | 3(1.4) | 5(3.3) | |
| G allele | 0.15 | 0.14 | 0.19 | 0.21 | 0.19 | 0.18 | 0.18 | 0.19 | |
Italic bold refers to the number of successfully genotyped patients with adequate clinical data in each group.
. Thymoma (+) MG vs. HC, P = 0.003, OR = 1.572 (1.160–2.132), PBon = 0.018
codominant model, thymoma (+) MG vs. HC, P = 0.017
additive model, thymoma (+) MG vs. HC, P = 0.0055
. Thymoma (+) MG vs. Thymoma (−) MG, P = 0.002, OR = 1.627 (1.188–2.229), PBon = 0.012
codominant model, thymoma (+) MG vs. thymoma (−) MG, P = 0.0025
additive model, thymoma (+) MG vs. thymoma (−) MG, P = 0.0023
. Thymoma (+) MG vs. HC, P = 0.002, OR = 1.596 (1.180-2.158), PBon = 0.012
codominant model, thymoma (+) MG vs. HC, P = 0.008
additive model, thymoma (+) MG vs. HC, P = 0.003
. Thymoma (+) MG vs. Thymoma (−) MG, P = 0.001, OR = 1.687 (1.236–2.302), PBon = 0.006
codominant model, thymoma (+) MG vs. thymoma (−) MG, P = 0.004
additive model, thymoma (+) MG vs. thymoma (−) MG, P = 0.0012
. AChR-Ab (+) MG vs. HC, P = 0.003, OR = 1.482 (1.146–1.915), PBon = 0.018
codominant model, AChR Ab (+) MG vs. HC, P = 0.0032
additive model, AChR Ab (+) MG vs. HC, P = 0.0007.