Table 1. Associaiton results of nine tagSNPs on 1p13.2 region in GD patients and controls.
| GWAS (1,442 vs.1,468) |
Replication (4,254 vs. 4,299) |
Combined (5,696 vs. 5,767) |
||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNP | Chr. Position | Alleles/ genotype | Case frequency | Control frequency | P Value | OR (95% CI) | Case frequency | Control frequency | P Value | OR (95% CI) | Case frequency | Control frequency | P Value | OR (95% CI) |
| rs7514649 | 114079822 | A<G | 0.18* | 0.16* | 0.0089 | 1.2 (1.05-1.38) | 0.18* | 0.17* | 0.4332 | 1.03 (0.95-1.12) | 0.18* | 0.17* | 0.0468 | 1.07 (1.00-1.15) |
| AA | 0.03 | 0.03 | 0.0305 | / | 0.03 | 0.03 | 0.4620 | / | 0.03 | 0.03 | 0.0805 | / | ||
| AG | 0.30 | 0.26 | 0.29 | 0.28 | 0.29 | 0.28 | ||||||||
| GG | 0.67 | 0.71 | 0.68 | 0.69 | 0.68 | 0.69 | ||||||||
| rs12753075 | 114127526 | T<C | 0.09* | 0.08* | 0.0419 | 1.21 (1.01-1.45) | 0.08* | 0.08* | 0.7315 | 0.98 (0.88-1.09) | 0.09* | 0.08* | 0.4635 | 1.04 (0.94-1.14) |
| TT | 0.01 | 0.00 | 0.1081 | / | 0.01 | 0.01 | 0.9425 | / | 0.01 | 0.01 | 0.7389 | / | ||
| TC | 0.17 | 0.15 | 0.15 | 0.15 | 0.02 | 0.15 | ||||||||
| CC | 0.82 | 0.85 | 0.84 | 0.84 | 0.97 | 0.84 | ||||||||
| rs1217223 | 114140889 | G<A | 0.33* | 0.29* | 0.0133 | 1.16 (1.03-1.29) | 0.31* | 0.31* | 0.4535 | 1.03 (0.96-1.09) | 0.31* | 0.30* | 0.0576 | 1.06 (1.00-1.12) |
| GG | 0.11 | 0.09 | 0.0423 | / | 0.10 | 0.10 | 0.4829 | / | 0.10 | 0.10 | 0.1398 | / | ||
| GA | 0.42 | 0.41 | 0.43 | 0.42 | 0.43 | 0.41 | ||||||||
| AA | 0.46 | 0.50 | 0.47 | 0.49 | 0.47 | 0.49 | ||||||||
| rs6669008 | 114166561 | G<A | 0.28* | 0.24* | 0.0004 | 1.23 (1.09-1.38) | 0.26* | 0.25* | 0.3158 | 1.04 (0.97-1.11) | 0.26* | 0.25* | 0.0095 | 1.08 (1.02-1.15) |
| GG | 0.08 | 0.06 | 0.0029 | / | 0.06 | 0.06 | 0.5702 | / | 0.07 | 0.06 | 0.0345 | / | ||
| GA | 0.39 | 0.40 | 0.40 | 0.39 | 0.40 | 0.38 | ||||||||
| AA | 0.53 | 0.54 | 0.54 | 0.55 | 0.54 | 0.56 | ||||||||
| rs1230647 | 114253639 | T<C | 0.37* | 0.33* | 0.0023 | 1.19 (1.06-1.32) | 0.35* | 0.34 | 0.2010 | 1.04 (0.98-1.11) | 0.36* | 0.34* | 0.0081 | 1.08 (1.02-1.14) |
| TT | 0.14 | 0.11 | 0.0077 | / | 0.13 | 0.12 | 0.4119 | / | 0.13 | 0.12 | 0.0239 | / | ||
| TC | 0.45 | 0.44 | 0.45 | 0.45 | 0.45 | 0.45 | ||||||||
| CC | 0.41 | 0.45 | 0.42 | 0.43 | 0.42 | 0.44 | ||||||||
| rs3811021 | 114356663 | G<A | 0.22* | 0.19* | 0.0010 | 1.24 (1.09-1.41) | 0.22* | 0.21* | 0.1383 | 1.06 (0.98-1.14) | 0.22* | 0.21* | 0.0033 | 1.10 (1.03-1.17) |
| GG | 0.06 | 0.03 | 0.0013 | / | 0.05 | 0.13 | 0.2340 | / | 0.05 | 0.04 | 0.0132 | / | ||
| GA | 0.33 | 0.31 | 0.39 | 0.74 | 0.34 | 0.32 | ||||||||
| AA | 0.61 | 0.65 | 0.56 | 0.13 | 0.61 | 0.63 | ||||||||
| rs1746853 | 114383097 | C<A | 0.27* | 0.24* | 0.0149 | 1.16 (1.03-1.31) | 0.26* | 0.25* | 0.1204 | 1.06 (0.99-1.13) | 0.26* | 0.25* | 0.0102 | 1.08 (1.02-1.15) |
| CC | 0.08 | 0.06 | 0.0205 | / | 0.07 | 0.07 | 0.2974 | / | 0.07 | 0.06 | 0.0271 | / | ||
| CA | 0.37 | 0.36 | 0.38 | 0.37 | 0.38 | 0.37 | ||||||||
| AA | 0.55 | 0.58 | 0.55 | 0.56 | 0.55 | 0.57 | ||||||||
| rs2358994 | 114429461 | G<A | 0.36* | 0.33* | 0.0432 | 1.12 (1.01-1.25) | 0.34* | 0.33* | 0.2892 | 1.04 (0.97-1.10) | 0.35* | 0.33* | 0.0521 | 1.06 (1.00-1.12) |
| GG | 0.13 | 0.12 | 0.0776 | / | 0.12 | 0.12 | 0.5684 | / | 0.12 | 0.12 | 0.1292 | / | ||
| GA | 0.45 | 0.42 | 0.44 | 0.43 | 0.44 | 0.43 | ||||||||
| AA | 0.42 | 0.46 | 0.44 | 0.45 | 0.43 | 0.45 | ||||||||
| rs17464525 | 114443899 | A<G | 0.18* | 0.15* | 0.0073 | 1.21 (1.05-1.39) | 0.18* | 0.17* | 0.2464 | 1.05 (0.97-1.14) | 0.18* | 0.17* | 0.0191 | 1.09 (1.01-1.16) |
| AA | 0.04 | 0.02 | 0.0106 | / | 0.03 | 0.03 | 0.1213 | / | 0.03 | 0.03 | 0.0460 | / | ||
| AG | 0.29 | 0.27 | 0.29 | 0.27 | 0.29 | 0.27 | ||||||||
| GG | 0.68 | 0.71 | 0.68 | 0.69 | 0.68 | 0.70 | ||||||||
Note: SNP: single nucleotide polymorphism, MAF: minor allele frequency, OR: odds ratio for the minor allele. * MAF