Association analyses of single nucleotide polymorphisms (SNPs) in the CLEC16A gene
| RA | JIA | T1D | AD | Control set 1 | Control set 2 | Controls total | |
|---|---|---|---|---|---|---|---|
| rs12708716: | |||||||
| Genotype | |||||||
| AA | 374 (46.8%) | 240 (47.3%) | 607 (50.9%) | NA1 | 434 (42.6%) | 474 (43.5%) | 908 (43.1%) |
| AG | 352 (44.0%) | 213 (42.0%) | 481 (40.3%) | 468 (45.9%) | 494 (45.3%) | 962 (45.6%) | |
| GG | 74 (9.3%) | 54 (10.7%) | 105 (8.8%) | 117 (11.5%) | 122 (11.2%) | 239 (11.3%) | |
| Total | 800 (100%) | 507 (100%) | 1193 (100%) | 1019 (100%) | 1090 (100%) | 2109 (100%) | |
| Allele | |||||||
| MAF | 31.3 | 31.7 | 29.0 | 34.4 | 33.9 | 34.1 | |
| OR | 0.88 | 0.89 | 0.79 | ||||
| p Value | 0.036 | 0.13 | 1×10−5 | ||||
| rs12917716: | |||||||
| Genotype | |||||||
| GG | 278 (34.8%) | 194 (38.6%) | 459 (38.2%) | 161 (39.3%) | 333 (32.5%) | 365 (32.7%) | 698 (32.6%) |
| GC | 393 (49.2%) | 219 (43.5%) | 568 (47.3%) | 206 (50.2%) | 515 (50.2%) | 555 (49.8%) | 1070 (50,0%) |
| CC | 127 (15.9%) | 90 (17.9%) | 175 (14.6%) | 43 (10.5%) | 177 (17.3%) | 195 (17.5%) | 372 (17.4%) |
| Total | 798 (100%) | 503 (100%) | 1202 (100%) | 410 (100%) | 1025 (100%) | 1115 (100%) | 2140 (100%) |
| Allele | |||||||
| MAF | 40.5 | 39.7 | 38.2 | 35.4 | 42.4 | 42.4 | 42.4 |
| OR | 0.93 | 0.89 | 0.84 | 0.75 | |||
| 95% CI | 0.82 to 1.04 | 0.78 to 1.03 | 0.76 to 0.93 | 0.64 to 0.87 | |||
| p Value | 0.20 | 0.12 | 8×10−4 | 2×10−4 | |||
| Rs6498169: | |||||||
| Genotype | |||||||
| AA | 276 (35.7%) | 184 (36.9%) | 450 (37.5%) | NA1 | 408 (39.8%) | 440 (40.5%) | 848 (40.2%) |
| AG | 380 (49.1%) | 230 (46.2%) | 577 (48.1%) | 493 (48.1%) | 517 (47.6%) | 1010 (47.9%) | |
| GG | 118 (15.2%) | 84 (16.9%) | 173 (14.4%) | 123 (12.0%) | 129 (11.9%) | 252 (11.9%) | |
| Total | 774 (100%) | 498 (100%) | 1200 (100%) | 1024 (100%) | 1086 (100%) | 2110 (100%) | |
| 95% CI | 1.05 to 1.33 | 1.03 to 1.37 | 1.01 to 1.24 | ||||
| p Value | 0.006 | 0.016 | 0.036 | ||||
In an earlier study including 332 of the patients, rs12708716 gave an OR of 0.74 (0.61 to 0.90), p=0.003. Rs6498169 was then tagged by rs27838 which had an OR of 1.04 (0.86 to 1.25).5
AD, Addison's disease; JIA, juvenile idiopathic arthritis; MAF, minor allele frequency; OR, odds ratio given for the minor allele versus the major allele; RA, rheumatoid arthritis; T1D, type 1 diabetes.