Table 2.
SNP | Chr | Gene | Genotype frequency | GWAS stage |
Replication |
Meta-analysis |
||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Case Afreq | Cont Afreq | p-value | OR (95% CI) | Case Afreq | Cont Afreq | p-value | OR (95% CI) | p-value | OR (95% CI) | |||||
Total population | ||||||||||||||
rs2976394a) | 8 | PSCA | Tb)Cc) | 0.40 | 0.52 | 1.07E-08 | 0.62 (0.52-0.73) | 0.43 | 0.50 | 5.09E-07 | 0.75 (0.67-0.84) | 1.66E-13 | 0.70 (0.64-0.77) | |
TT | 0.34 | 0.23 | Ref | 1 | 0.29 | 0.25 | Ref | 1 | Ref | 1 | ||||
TC | 0.51 | 0.50 | 0.00427 | 0.69 (0.53-0.89) | 0.55 | 0.50 | 0.351 | 0.92 (0.77-1.10) | 0.0155 | 0.84 (0.72-0.97) | ||||
CC | 0.14 | 0.27 | 9.86E-09 | 0.37 (0.26-0.52) | 0.16 | 0.25 | 1.61E-07 | 0.53 (0.42-0.67) | < 0.0001 | 0.47 (0.39-0.57) | ||||
rs2294008d) | 8 | PSCA | Tb)Cc) | 0.40 | 0.52 | 1.38E-08 | 0.62 (0.53-0.73) | 0.43 | 0.50 | 5.28E-07 | 0.75 (0.67-0.84) | 1.94E-13 | 0.70 (0.64-0.77) | |
TT | 0.35 | 0.23 | Ref | 1 | 0.29 | 0.25 | Ref | 1 | Ref | 1 | ||||
TC | 0.51 | 0.50 | 0.051 | 0.69 (0.54-0.90) | 0.55 | 0.50 | 0.348 | 0.92 (0.76-1.10) | 0.0164 | 0.85 (0.72-0.97) | ||||
CC | 0.14 | 0.26 | 1.23E-08 | 0.37 (0.26-0.52) | 0.16 | 0.25 | 1.67E-07 | 0.53 (0.41-0.67) | < 0.0001 | 0.47 (0.39-0.57) | ||||
rs12025565e) | 1 | - | Gb)Ac) | 0.32 | 0.24 | 4.47E-05 | 1.45 (1.21-1.73) | 0.28 | 0.27 | 0.3841 | 1.06 (0.93-1.20) | 0.0023 | 1.17 (1.06-1.30) | |
GG | 0.44 | 0.57 | Ref | 1 | 0.51 | 0.54 | Ref | 1 | Ref | 1 | ||||
GA | 0.45 | 0.36 | 9.39E-06 | 1.72 (1.35-2.19) | 0.42 | 0.39 | 0.087 | 1.15 (0.97-1.36) | < 0.001 | 1.31 (1.15-1.50) | ||||
AA | 0.09 | 0.07 | 0.0261 | 1.64 (1.06-2.55) | 0.07 | 0.07 | 0.808 | 0.96 (0.70-1.32) | 0.2115 | 1.18 (0.91-1.61) | ||||
Male | ||||||||||||||
rs6936644f) | 6 | ZSCAN31 | Cb)Tc) | 0.54 | 0.42 | 9.60E-06 | 1.57 (1.29-1.92) | 0.49 | 0.47 | 0.3367 | 1.07 (0.93-1.24) | 0.0008 | 1.22 (1.09-1.37) | |
CC | 0.22 | 0.35 | Ref | 1 | 0.24 | 0.26 | Ref | 1 | Ref | 1 | ||||
CT | 0.48 | 0.46 | 0.002785 | 1.71 (1.20-2.44) | 0.53 | 0.52 | 0.328 | 1.13 (0.89-1.43) | 0.0155 | 1.27 (1.05-1.55) | ||||
TT | 0.30 | 0.19 | 1.42E-05 | 2.45 (1.63-3.67) | 0.22 | 0.22 | 0.357 | 1.14 (0.86-1.52) | 0.0011 | 1.47 (1.17-1.86) | ||||
rs7215433g) | 17 | - | Tb)Cc) | 0.20 | 0.29 | 2.80E-05 | 0.59 (0.46-0.75) | 0.23 | 0.24 | 0.6649 | 0.96 (0.82-1.14) | 0.0081 | 0.83 (0.73-0.95) | |
TT | 0.64 | 0.49 | Ref | 1 | 0.60 | 0.58 | Ref | 1 | Ref | 1 | ||||
TC | 0.33 | 0.43 | 0.000343 | 0.57 (0.42-0.78) | 0.34 | 0.36 | 0.436 | 0.92 (0.75-1.14) | 0.0069 | 0.79 (0.66-0.94) | ||||
CC | 0.04 | 0.07 | 0.007788 | 0.39 (0.19-0.78) | 0.06 | 0.06 | 0.908 | 1.02 (0.68-1.55) | 0.1962 | 0.79 (0.55-1.13) | ||||
rs74396937 | 11 | OR4C46 | Ab)Gc) | 0.08 | 0.14 | 3.65E-05 | 0.49 (0.35-0.69) | 0.25 | 0.26 | 0.3150 | 0.92 (0.79-1.08) | 0.0079 | 0.82 (0.71-0.95) | |
AA | 0.86 | 0.74 | Ref | 1 | 0.58 | 0.54 | Ref | 1 | Ref | 1 | ||||
AG | 0.12 | 0.24 | 5.72E-06 | 0.39 (0.26-0.58) | 0.35 | 0.39 | 0.159 | 0.86 (0.70-1.06) | 0.0016 | 0.74 (0.62-0.89) | ||||
GG | 0.02 | 0.03 | 0.235 | 0.55 (0.21-1.47) | 0.07 | 0.07 | 0.831 | 0.96 (0.65-1.42) | 0.6295 | 0.92 (0.64-1.31) | ||||
Female | ||||||||||||||
rs2976394a) | 8 | PSCA | Tb)Cc) | 0.38 | 0.53 | 3.36E-06 | 0.53 (0.40-0.69) | 0.43 | 0.50 | 0.0043 | 0.77 (0.64-0.92) | 6.71E-07 | 0.68 (0.58-0.79) | |
TT | 0.35 | 0.22 | Ref | 1 | 0.29 | 0.25 | Ref | 1 | Ref | 1 | ||||
TC | 0.54 | 0.50 | 0.036255 | 0.65 (0.43-0.97) | 0.55 | 0.50 | 0.799 | 0.96 (0.72-1.29) | 0.1761 | 0.85 (0.67-1.08) | ||||
CC | 0.11 | 0.28 | 5.55E-06 | 0.25 (0.14-0.46) | 0.16 | 0.25 | 0.002 | 0.54 (0.37-0.81) | < 0.0001 | 0.42 (0.31-0.59) | ||||
rs2294008d) | 8 | PSCA | Tb)Cc) | 0.38 | 0.53 | 5.10E-06 | 0.53 (0.41-0.70) | 0.43 | 0.50 | 0.0043 | 0.76 (0.64-0.92) | 8.00E-07 | 0.68 (0.59-0.79) | |
TT | 0.35 | 0.22 | Ref | 1 | 0.29 | 0.25 | Ref | 1 | Ref | 1 | ||||
TC | 0.43 | 0.50 | 0.05599 | 0.67 (0.45-1.01) | 0.55 | 0.50 | 0.838 | 0.97 (0.72-1.30) | 0.2281 | 0.86 (0.68-1.10) | ||||
CC | 0.11 | 0.28 | 7.39E-06 | 0.26 (0.14-0.46) | 0.15 | 0.25 | 0.002 | 0.54 (0.36-0.80) | < 0.0001 | 0.42 (0.30-0.59) | ||||
rs12233126f) | 2 | EIF5B | Tb)Ac) | 0.38 | 0.27 | 4.97E-05 | 1.77 (1.34-2.33) | 0.28 | 0.28 | 0.9352 | 1.01 (0.82-1.24) | 0.0135 | 1.23 (1.04-1.45) | |
TT | 0.38 | 0.54 | Ref | 1 | 0.52 | 0.51 | Ref | 1 | Ref | 1 | ||||
TA | 0.48 | 0.39 | 0.003291 | 1.80 (1.21-2.66) | 0.40 | 0.42 | 0.851 | 0.97 (0.75-1.27) | 0.1753 | 1.16 (0.93-1.45) | ||||
AA | 0.14 | 0.07 | 0.000249 | 3.11 (1.69-5.69) | 0.08 | 0.07 | 0.769 | 1.08 (0.66-1.76) | 0.0185 | 1.57 (1.07-2.30) |
GWAS, genome-wide association study; SNP, single-nucleotide polymorphism; Chr, chromosome; CaseAfreq, case allele frequency; ContAfreq, control allele frequency; OR, odds ratio; CI, confidence interval; LD, linkage disequilibrium.
49 SNPs were included in the same LD block,
Major allele,
Minor allele,
Moststudied SNP and included in the same LD block with rs2976394,
2 SNPs were included in the same LD block,
3 SNPs were included in the same LD block,
17 SNPs were included in the same LD block.