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. Author manuscript; available in PMC: 2013 Oct 29.
Published in final edited form as: Nat Genet. 2013 Jan 6;45(2):202–207. doi: 10.1038/ng.2520

Table 1.

Cochran-Mantel-Haenszel meta-analysis of BD associated loci.

Series* Method Diagnosis Subject n C T MAF(%) OR (95% CI) P value
CCR1-CCR3 rs7616215 Turkish Discovery TOF-MS BD 1180 630 1730 27 0.71 (0.63-0.80) 2.17 × 10−8
Control 1258 855 1661 34
Japanese replication Affy 500K BD 610 160 1060 13.1 0.82 (0.66-1.02) 0.079
Control 692 215 1169 15.5
Turkish replication TOF-MS BD 816 441 1191 27 0.70 (0.60-0.82) 1.09 × 10−5
Control 630 436 824 34.6
Combined BD 2606 0.72 (0.66-0.79) 4.30 × 10−13
Control 2580
Series Method Diagnosis Subject n A C MAF(%) OR (95% CI) P value
STAT4 rs7574070 Turkish Discovery TOF-MS BD 1166 1128 1204 48.4 1.28 (1.14-1.43) 1.92 × 10−5
Control 1250 1059 1441 42.4
Japanese replication Affy 500K BD 602 618 586 51.3 1.18 (1.01-1.37) 0.034
Control 716 676 756 47.2
Turkish replication TOF-MS BD 815 803 827 49.3 1.34 (1.15-1.55) 1.12 × 10−4
Control 630 530 730 42.1
Combined BD 2583 1.27 (1.17-1.37) 1.29 × 10−9
Control 2596
Series Method Diagnosis Subject n T C MAF(%) OR (95% CI) P value
KLRC4 rs2617170 (KLRC4p.Asn104Ser) Turkish Discovery TOF-MS BD 1144 734 1554 32.1 0.80 (0.71-0.90) 2.54 × 10−4
Control 1257 933 1581 37.1
Japanese replication Affy 500K BD 580 361 799 31.1 0.75 (0.64-0.89) 8.36 × 10−4
Control 657 493 821 37.5
Turkish replication TaqMan BD 821 510 1132 31.1 0.77 (0.66-0.89) 7.61 × 10−4
Control 628 465 791 37
Combined BD 2545 0.78 (0.72-0.85) 1.34 × 10−9
Control 2542
Series Method Diagnosis Subject n A G MAF(%) OR (95% CI) P value
IL12A rs17810546 Turkish Discovery Illumina chip BD 1209 208 2210 8.60 1.64 (1.31-2.04) 1.20 × 10−5
Control 1278 139 2417 5.44
Turkish replication TOF-MS BD 821 136 1504 8.29 1.41 (1.06-1.89) 0.020
Control 626 75 1173 6.00
Combined BD 2029 1.55 (1.30-1.85) 6.01 × 10−7
Control 1902
Series Method Diagnosis Subject n TT CC+CT TT(%) OR (95% CI) P value
ERAP1 rs17482078 (ERAP1 p.Arg725Gln) Turkish Discovery TOF-MS Uveitis BD 420 32 388 7.62 4.21 (2.45-7.23) 2.03 × 10−8
Control 1249 24 1225 1.92
Turkish replication TOF-MS Uveitis BD 370 21 349 5.67 5.36 (2.46-11.7) 2.44 × 10−5
Control 630 7 623 1.11
Combined Uveitis BD 790 4.56 (2.88-7.22) 4.73 × 10−11
Control 1879
*

TOF-MS, time-of-flight mass-spectrometry; MAF, minor allele frequency, OR, odds ratio; 95%CI, 95% confidence interval. Meta-analysis results are denoted in bold. Japanese samples were not included in meta-analysis of the IL12A rs17810546 and ERAP1 rs17482078 variants because they are not polymorphic or they demonstrate too low frequency in the Japanese population.