Table 2. Replication testing for 11 top GWAS SNPs in an independent study of case–parent trios of Mexican ethnicity.
SNPa | Chr | SNP type | Geneb | Minor allele | GWAS (N = 492 trios) | Replication study (N = 177 trios) | ||||||||
MAF | RRc | Lower CI | Upper CI | Log-linear p-value | MAF | RRc | Lower CI | Upper CI | Log-linear p-value | |||||
rs1867612 | 16 | Intergenic | (GOT2, CDH8) | A | 0.08 | 0.44 | 0.31 | 0.63 | 1.55×10−6 | 0.11 | 1.11 | 0.68 | 1.84 | 0.67 |
rs2247572 | 8 | Intronic | KCNB2 | T | 0.15 | 1.88 | 1.45 | 2.44 | 1.94×10−6 | 0.16 | 1.27 | 0.84 | 1.89 | 0.26 |
rs6063725 | 20 | Intergenic | (SALL4, ZFP64) | C | 0.34 | 1.56 | 1.30 | 1.89 | 3.52×10−6 | 0.38 | 1.15 | 0.86 | 1.56 | 0.35 |
rs720810 | 20 | Intergenic | (SALL4, ZFP64) | G | 0.26 | 1.61 | 1.32 | 2.00 | 5.13×10−6 | 0.32 | 1.16 | 0.85 | 1.61 | 0.34 |
rs2378383 | 9 | Intergenic | (CHCHD9, TLE4) | G | 0.22 | 0.61 | 0.49 | 0.76 | 7.10×10−6 | 0.20 | 0.63 | 0.41 | 0.96 | 0.030 |
rs6951506 | 7 | Intronic | DOCK4 | A | 0.20 | 0.60 | 0.47 | 0.76 | 1.10×10−5 | 0.24 | 0.88 | 0.62 | 1.26 | 0.50 |
rs3734083 | 5 | Intronic | GALNT10 | T | 0.18 | 1.68 | 1.33 | 2.13 | 1.21×10−5 | 0.19 | 0.72 | 0.48 | 1.07 | 0.10 |
rs2378377 | 9 | Intergenic | (CHCHD9, TLE4) | G | 0.28 | 0.64 | 0.53 | 0.79 | 1.36×10−5 | 0.28 | 0.71 | 0.50 | 1.02 | 0.061 |
rs4674039 | 2 | Intergenic | (FN1, MREG) | C | 0.42 | 0.67 | 0.56 | 0.81 | 1.51×10−5 | 0.49 | 1.11 | 0.82 | 1.51 | 0.50 |
rs1830206 | 10 | Intergenic | (FZD8, ANKRD30A) | G | 0.26 | 1.55 | 1.27 | 1.89 | 2.17×10−5 | 0.25 | 1.20 | 0.85 | 1.71 | 0.30 |
rs3814593 | 10 | Intronic | PITRM1 | T | 0.32 | 0.67 | 0.55 | 0.81 | 3.30×10−5 | 0.35 | 0.82 | 0.58 | 1.15 | 0.24 |
SNPs are ranked from smallest to largest GWAS p-value.
Gene names are listed for SNPs mapping within genes. For intergenic SNPs, the nearest genes (upstream, downstream) are listed.
Relative risk for carrying one copy of the minor allele compared to carrying no copies.