Table 1.
Association testing of single nucleotide polymorphisms (SNPs) in the region of the EXOC3L gene
| SNP | Study | Chromosome 16 position | MAF cases | MAF controls | MAF 58BC | p Value | OR (95% CI) | Cases (n) | Controls (n) | Power (%) |
|---|---|---|---|---|---|---|---|---|---|---|
| Study A | ||||||||||
| rs9939768 C/G | WTCCC/TASC | 67 219 107 | 0.085 (C) | 0.063 (C) | 0.004 | 1.38 (1.10 to 1.74) | 921 | 1453 | 70 | |
| rs9939768 C/G | Replication vs three diseases | 67 219 107 | 0.075 (C) | 0.061 (C) | 0.060 | 1.25 (0.99 to 1.57) | 724 | 2871 | 40 | |
| rs9939768 C/G | Meta-analysis | 67 219 107 | 0.080 (C) | 0.061 (C) | 0.0008 | 1.31 (1.12 to 1.54) | 1645 | 4324 | 84 | |
| rs6979 C/T | WTCCC/TASC | 67 691 668 | 0.51 (C) | 0.47 (C) | 0.01 | 1.16 (1.03 to 1.31) | 922 | 1465 | 70 | |
| rs6979 C/T | Replication vs three diseases | 67 691 668 | 0.5 1 (C) | 0.48 (C) | 0.03 | 1.14 (1.01 to 1.28) | 725 | 2879 | 58 | |
| rs6979 C/T | Meta-analysis | 67 691 668 | 0.51 (C) | 0.48 (C) | 0.0009 | 1.15 (1.06 to 1.23) | 1647 | 4344 | 93 | |
| Study B | ||||||||||
| rs9033 A/G | This study plus 58BC controls | 67 181 999 | 0.48 (G) | 0.43 (G) | 0.43 (G) | 0.00002 | 1.23 (1.12 to 1.36) | 1345 | 2297 | 99 |
| rs13312727 T/G | This study | 67 188 443 | 0.03 (G) | 0.03 (G) | 0.70 | 1.07 (0.70 to 1.62) | 1530 | 996 | 7 | |
| rs868213 A/G | This study plus 58BC controls | 67 220 457 | 0.09 (G) | 0.07 (G) | 0.06 (G) | 0.00002 | 1.45 (1.22 to 1.72) | 1558 | 2423 | 99 |
| rs9924876 G/A | This study | 67 221 050 | 0.022 (A) | 0.025 (A) | 0.50 | 0.88 (0.57 to 1.36) | 1502 | 961 | 10 | |
| rs8051891 G/A | This study | 67 223 775 | 0.002 (A) | 0 (A) | 0.07 | NA | 1534 | 998 | NA | |
| Additional SNPs | ||||||||||
| rs3868142 C/T | WTCCC/TASC | 67 320 223 | 0.081 (T) | 0.068 (T) | 0.06 | 1.23 (0.98 to 1.55) | 922 | 1466 | 46 | |
| rs8052655 G/A | WTCCC/TASC | 67 409 180 | 0.048 (A) | 0.041 (A) | 0.60 | 1.09 (0.79 to 1.51) | 922 | 1466 | 9 | |
| rs9972635 A/G | WTCCC/TASC | 67 682 580 | 0.064 (G) | 0.054 (G) | 0.32 | 1.13 (0.87 to 1.48) | 922 | 1466 | 16 | |
SNPs with significant association are highlighted in bold. SNPs rs3848290 at position 67 040 335 bp and rs11558534 at position 67 867 739 bp are the next non-significant SNPs from the WTCCC/TASC study; they mark the limits of the associated region. SNP positions are taken from the Ensembl database (http://www.ensembl.org) (August 2009).
MAF, minor allele frequency; NA, not applicable; WTCCC/TASC, Wellcome Trust Case Control Consortium and Triple A Spondyloarthritis Consortium.