Table 3.
Locus and LD Block | SNP | Reference No. | Reference |
Model Type |
|||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MLE |
Bayesian |
Hierarchical |
|||||||||||
ORa | 95% CI | ORb | 95% CI | CLR | ORb | 95% PI | PLR | ORc | 95% PI | PLR | |||
1p12 | rs11249433d | 28 | 1.14 | 1.10, 1.19 | 1.26 | 0.99, 1.60 | 1.61 | 1.22 | 0.96, 1.48 | 1.53 | 1.26 | 0.99, 1.60 | 1.61 |
CASP8 block 1 | rs1045485e | 33 | 1.12 | 1.08, 1.18 | 0.93 | 0.67, 1.29 | 1.93 | 0.96 | 0.69, 1.22 | 1.77 | 1.12 | 0.39, 3.17 | 8.05 |
CASP8 block 1 | rs17468277 | 1.09 | 0.78, 1.54 | 1.99 | 1.07 | 0.78, 1.38 | 1.78 | 1.20 | 0.41, 3.53 | 8.68 | |||
2q35 | rs13387042d | 27 | 1.20 | 1.14, 1.26 | 1.02 | 0.86, 1.22 | 1.43 | 1.02 | 0.86, 1.20 | 1.39 | 1.02 | 0.86, 1.22 | 1.43 |
2p | rs4666451f | 23 | 1.03 | 1.00, 1.06 | 1.15 | 0.96, 1.39 | 1.45 | 1.13 | 0.95, 1.34 | 1.41 | 1.15 | 0.96, 1.39 | 1.45 |
SLC4A7 | rs4973768d | 29 | 1.16 | 1.10, 1.24 | 0.90 | 0.77, 1.06 | 1.38 | 0.91 | 0.77, 1.04 | 1.35 | 0.90 | 0.77, 1.06 | 1.38 |
4p | rs12505080f | 25 | 1.15g | 1.03, 1.28 | 1.09 | 0.88, 1.34 | 1.52 | 1.08 | 0.88, 1.30 | 1.48 | 1.09 | 0.88, 1.34 | 1.52 |
TLR1 | rs7696175f | 25 | 1.12g | 1.00, 1.26 | 1.39 | 1.04, 1.86 | 1.79 | 1.29 | 0.99, 1.66 | 1.68 | 1.39 | 1.04, 1.86 | 1.80 |
MRPS30 | rs4415084d | 32 | 1.16 | 1.10, 1.21 | 1.13 | 0.97, 1.33 | 1.38 | 1.13 | 0.96, 1.30 | 1.35 | 1.13 | 0.97, 1.33 | 1.38 |
MRPS30 | rs10941679f | 32 | 1.19 | 1.13, 1.26 | 1.00 | 0.82, 1.22 | 1.49 | 1.01 | 0.83, 1.19 | 1.43 | 1.00 | 0.82, 1.22 | 1.49 |
5p12 | rs981782d | 23 | 1.04 | 1.01, 1.08 | 1.11 | 0.84, 1.46 | 1.74 | 1.09 | 0.84, 1.36 | 1.61 | 1.11 | 0.84, 1.46 | 1.74 |
5q | rs30099f | 23 | 1.05 | 1.01, 1.10 | 1.22 | 0.98, 1.52 | 1.55 | 1.19 | 0.96, 1.44 | 1.50 | 1.22 | 0.98, 1.52 | 1.55 |
MAP3K1 | rs889312d | 23 | 1.13 | 1.10, 1.16 | 0.95 | 0.80, 1.13 | 1.41 | 0.96 | 0.81, 1.11 | 1.37 | 0.95 | 0.80, 1.13 | 1.41 |
ESR1 | rs2046210d | 30 | 1.29 | 1.21, 1.37 | 1.22 | 1.04, 1.43 | 1.38 | 1.20 | 1.03, 1.39 | 1.35 | 1.22 | 1.04, 1.43 | 1.38 |
ESR1 | rs851974 | 0.93 | 0.76, 1.14 | 1.50 | 0.94 | 0.78, 1.13 | 1.45 | 0.93 | 0.75, 1.14 | 1.50 | |||
ESR1 | rs2077647 | 1.07 | 0.92, 1.25 | 1.37 | 1.07 | 0.92, 1.23 | 1.34 | 1.07 | 0.92, 1.25 | 1.37 | |||
ESR1 | rs2234693 | 0.96 | 0.82, 1.13 | 1.37 | 0.97 | 0.83, 1.12 | 1.35 | 0.96 | 0.82, 1.13 | 1.37 | |||
ESR1 | rs1801132e | 33 | 1.05 | 1.00, 1.11 | 1.19 | 0.93, 1.52 | 1.64 | 1.16 | 0.91, 1.42 | 1.55 | 1.19 | 0.93, 1.52 | 1.64 |
ESR1 | rs3020314e | 33 | 1.12 | 1.06,1.18 | 1.00 | 0.84, 1.19 | 1.41 | 1.01 | 0.85, 1.17 | 1.37 | 1.00 | 0.84, 1.19 | 1.41 |
ESR1 | rs3798577 | 1.02 | 0.88, 1.19 | 1.36 | 1.02 | 0.89, 1.18 | 1.33 | 1.02 | 0.87, 1.19 | 1.36 | |||
ECHDC1 | rs2180341d | 24 | 1.41 | 1.25, 1.59 | 0.98 | 0.83, 1.15 | 1.39 | 0.98 | 0.84, 1.14 | 1.36 | 0.98 | 0.83, 1.15 | 1.39 |
RELN | rs17157903f | 25 | 1.11 | 1.00, 1.23 | 1.07 | 0.83, 1.37 | 1.64 | 1.07 | 0.85, 1.31 | 1.54 | 1.07 | 0.83, 1.37 | 1.64 |
8q24 | rs13281615d | 23 | 1.08 | 1.05, 1.11 | 1.00 | 0.86, 1.18 | 1.38 | 1.01 | 0.85, 1.17 | 1.37 | 1.00 | 0.86, 1.18 | 1.38 |
8q24 | rs1562430d | 29 | 1.17 | 1.10, 1.25 | 1.00 | 0.86, 1.17 | 1.36 | 1.00 | 0.87, 1.16 | 1.34 | 1.00 | 0.86, 1.17 | 1.36 |
CDKN2A/B | rs3731257 | 0.88 | 0.67, 1.15 | 1.71 | 0.91 | 0.71, 1.14 | 1.60 | 0.88 | 0.67, 1.15 | 1.71 | |||
CDKN2A/B block 1 | rs518394 | 1.01 | 0.76, 1.35 | 1.76 | 1.02 | 0.78, 1.28 | 1.64 | 1.01 | 0.73, 1.40 | 1.76 | |||
CDKN2A/B block 1 | rs564398 | 1.01 | 0.75, 1.35 | 1.79 | 1.01 | 0.77, 1.27 | 1.66 | 1.00 | 0.72, 1.40 | 1.96 | |||
CDKN2A/B | rs1011970d | 29 | 1.20 | 1.11, 1.30 | 0.95 | 0.81, 1.11 | 1.38 | 0.96 | 0.82, 1.10 | 1.34 | 0.95 | 0.81, 1.11 | 1.38 |
CDKN2A/B | rs10757278 | 0.91 | 0.75, 1.12 | 1.50 | 0.93 | 0.76, 1.09 | 1.44 | 0.91 | 0.75, 1.12 | 1.50 | |||
CDKN2A/B | rs10811661 | 1.00 | 0.74, 1.35 | 1.83 | 1.01 | 0.76, 1.28 | 1.67 | 1.00 | 0.74, 1.35 | 1.83 | |||
ANKRD16 | rs2380205d | 29 | 1.06 | 1.02, 1.10 | 0.97 | 0.83, 1.13 | 1.37 | 0.98 | 0.84, 1.13 | 1.34 | 0.97 | 0.83, 1.13 | 1.37 |
ZNF365 | rs10995190d | 29 | 1.16 | 1.10, 1.22 | 1.06 | 0.87, 1.29 | 1.49 | 1.05 | 0.86, 1.23 | 1.44 | 1.06 | 0.87, 1.29 | 1.49 |
ZMIZ1 | rs704010d | 29 | 1.07 | 1.03, 1.11 | 1.05 | 0.80, 1.36 | 1.69 | 1.04 | 0.80, 1.28 | 1.61 | 1.05 | 0.80, 1.36 | 1.69 |
FGFR2 | rs1896395 | 1.01 | 0.83, 1.23 | 1.48 | 1.02 | 0.84, 1.20 | 1.44 | 1.01 | 0.83, 1.23 | 1.48 | |||
FGFR2 block 1 | rs3750817 | 1.74 | 1.34, 2.26 | 1.69 | 1.61 | 1.22, 2.02 | 1.66 | 1.38 | 1.05, 1.83 | 1.74 | |||
FGFR2 block 1 | rs10736303f | 23 | 1.25 | 1.18, 1.32 | 1.39 | 1.12, 1.74 | 1.56 | 1.33 | 1.07, 1.61 | 1.51 | 1.08 | 0.83, 1.39 | 1.67 |
FGFR2 block 1 | rs11200014 | 1.04 | 0.86, 1.26 | 1.47 | 1.04 | 0.85, 1.23 | 1.45 | 0.97 | 0.70, 1.34 | 1.92 | |||
FGFR2 block 1 | rs2981579d | 28 | 1.17g | 1.07, 1.27 | 1.22 | 1.04, 1.42 | 1.36 | 1.19 | 1.03, 1.37 | 1.33 | 1.10 | 0.93, 1.31 | 1.41 |
FGFR2 block 1 | rs1078806f | 24 | 1.26 | 1.13, 1.40 | 1.06 | 0.88, 1.29 | 1.47 | 1.06 | 0.87, 1.25 | 1.43 | 1.00 | 0.72, 1.38 | 1.92 |
FGFR2 block 2 | rs2981578f | 23 | 1.26 | 1.19, 1.34 | 1.42 | 1.14, 1.77 | 1.56 | 1.36 | 1.10, 1.65 | 1.51 | 1.23 | 0.99, 1.53 | 1.54 |
FGFR2 block 2 | rs1219648d | 25 | 1.27 | 1.18, 1.36 | 1.19 | 1.02, 1.39 | 1.37 | 1.18 | 1.01, 1.35 | 1.33 | 1.01 | 0.82, 1.24 | 1.51 |
FGFR2 block 2 | rs2912774f | 23 | 1.26 | 1.19, 1.34 | 1.27 | 1.09, 1.49 | 1.37 | 1.25 | 1.06, 1.43 | 1.35 | 1.09 | 0.80, 1.49 | 1.85 |
FGFR2 block 2 | rs2936870f | 23 | 1.26 | 1.19, 1.34 | 1.27 | 1.09, 1.48 | 1.37 | 1.25 | 1.07, 1.44 | 1.34 | 1.09 | 0.80, 1.48 | 1.84 |
FGFR2 block 3 | rs2420946f | 25 | 1.25 | 1.18, 1.36 | 1.17 | 1.00, 1.37 | 1.37 | 1.16 | 1.00, 1.35 | 1.35 | 0.95 | 0.72, 1.25 | 1.73 |
FGFR2 block 3 | rs2162540 | 1.23 | 1.05, 1.44 | 1.36 | 1.21 | 1.04, 1.40 | 1.34 | 1.27 | 0.96, 1.66 | 1.37 | |||
FGFR2 | rs2981582d | 23 | 1.26 | 1.23, 1.30 | 1.19 | 1.02, 1.39 | 1.37 | 1.18 | 1.00, 1.35 | 1.35 | 1.19 | 1.02, 1.39 | 1.37 |
FGFR2 | rs3135718f | 23 | 1.15 | 1.07, 1.23 | 1.26 | 1.08, 1.46 | 1.35 | 1.24 | 1.07, 1.43 | 1.33 | 1.26 | 1.08, 1.46 | 1.35 |
10q | rs10510126f | 25 | 1.20 | 1.08, 1.35 | 1.04 | 0.82, 1.32 | 1.61 | 1.04 | 0.82, 1.25 | 1.53 | 1.04 | 0.82, 1.32 | 1.61 |
ATM | rs1801516 | 1.22 | 0.77, 1.95 | 2.54 | 1.14 | 0.76, 1.58 | 2.08 | 1.22 | 0.77, 1.95 | 2.54 | |||
ATM | rs664143 | 0.95 | 0.81, 1.11 | 1.38 | 0.96 | 0.82, 1.10 | 1.35 | 0.95 | 0.81, 1.11 | 1.38 | |||
ATM | rs170548 | 0.86 | 0.67, 1.11 | 1.66 | 0.90 | 0.70, 1.10 | 1.57 | 0.86 | 0.67, 1.11 | 1.66 | |||
ATM | rs3092993 | 1.22 | 0.77, 1.95 | 2.54 | 1.14 | 0.76, 1.58 | 2.08 | 1.22 | 0.77, 1.95 | 2.54 | |||
LSP1 | rs3817198d | 23 | 1.07 | 1.04, 1.11 | 1.01 | 0.82, 1.24 | 1.52 | 1.01 | 0.84, 1.21 | 1.47 | 1.01 | 0.82, 1.24 | 1.52 |
LSP1 | rs909116d | 29 | 1.17 | 1.10, 1.24 | 1.00 | 0.84, 1.19 | 1.42 | 1.01 | 0.84, 1.17 | 1.39 | 1.00 | 0.84, 1.19 | 1.42 |
H19 | rs2107425f | 23 | 1.04 | 1.01, 1.08 | 0.84 | 0.71, 0.98 | 1.38 | 0.86 | 0.73, 0.98 | 1.35 | 0.84 | 0.71, 0.98 | 1.38 |
TOX3 | rs8049149 | 0.92 | 0.54, 1.56 | 2.87 | 0.98 | 0.64, 1.35 | 2.10 | 0.92 | 0.54, 1.56 | 2.87 | |||
TOX3 | rs16951186 | 0.90 | 0.74, 1.09 | 1.49 | 0.92 | 0.76, 1.10 | 1.45 | 0.90 | 0.74, 1.09 | 1.49 | |||
TOX3 | rs8051542f | 23 | 1.09 | 1.06, 1.13 | 1.14 | 0.97, 1.35 | 1.39 | 1.13 | 0.97, 1.30 | 1.35 | 1.14 | 0.97, 1.35 | 1.39 |
TOX3 | rs12443621f | 23 | 1.11 | 1.08, 1.14 | 0.86 | 0.74, 1.01 | 1.36 | 0.88 | 0.75, 1.00 | 1.34 | 0.86 | 0.74, 1.01 | 1.36 |
TOX3 block 1 | rs3803662d | 23 | 1.20 | 1.16, 1.24 | 1.06 | 0.90, 1.23 | 1.37 | 1.05 | 0.91, 1.21 | 1.34 | 1.11 | 0.94, 1.31 | 1.39 |
TOX3 block 1 | rs4784227d | 26 | 1.25 | 1.20, 1.31 | 1.25 | 0.93, 1.67 | 1.80 | 1.19 | 0.90, 1.51 | 1.67 | 1.28 | 0.96, 1.71 | 1.77 |
TOX3 block 2 | rs3104746 | 1.54 | 1.27, 1.86 | 1.46 | 1.49 | 1.22, 1.75 | 1.43 | 1.39 | 1.14, 1.71 | 1.50 | |||
TOX3 block 2 | rs3112562 | 1.28 | 1.09, 1.50 | 1.37 | 1.26 | 1.09, 1.46 | 1.35 | 1.12 | 0.94, 1.33 | 1.41 | |||
TOX3 | rs9940048 | 1.10 | 0.93, 1.31 | 1.40 | 1.10 | 0.92, 1.29 | 1.39 | 1.10 | 0.93, 1.31 | 1.41 | |||
TP53 | rs9894946 | 0.96 | 0.68, 1.36 | 2.01 | 0.98 | 0.70, 1.28 | 1.82 | 0.96 | 0.68, 1.37 | 2.01 | |||
TP53 | rs1614984 | 1.07 | 0.92, 1.25 | 1.36 | 1.07 | 0.91, 1.22 | 1.34 | 1.07 | 0.92, 1.25 | 1.36 | |||
TP53 block 1 | rs12951053e | 33 | 1.15 | 1.04, 1.26 | 1.03 | 0.80, 1.32 | 1.64 | 1.03 | 0.81, 1.25 | 1.55 | 1.01 | 0.77, 1.32 | 1.71 |
TP53 block 1 | rs2909430 | 1.06 | 0.89, 1.25 | 1.40 | 1.06 | 0.89, 1.22 | 1.37 | 1.04 | 0.84, 1.28 | 1.52 | |||
TP53 block 1 | rs1042522 | 0.98 | 0.83, 1.15 | 1.38 | 0.98 | 0.83, 1.13 | 1.36 | 1.00 | 0.82, 1.22 | 1.50 | |||
TP53 | rs8079544 | 0.89 | 0.69, 1.15 | 1.66 | 0.92 | 0.72, 1.12 | 1.57 | 0.89 | 0.69, 1.15 | 1.66 | |||
COX11 block 1 | rs7222197f | 29 | 1.12 | 1.04, 1.20 | 1.14 | 0.97, 1.33 | 1.38 | 1.12 | 0.95, 1.29 | 1.36 | 1.07 | 0.77, 1.47 | 1.90 |
COX11 block 1 | rs6504950f | 31 | 1.05 | 1.03, 1.09 | 1.13 | 0.96, 1.32 | 1.37 | 1.12 | 0.95, 1.28 | 1.35 | 1.07 | 0.77, 1.47 | 1.90 |
Abbreviations: CI, confidence interval; CLR, confidence limit ratio; GWAS, genome-wide association study; LD, linkage disequilibrium; MLE, maximum likelihood estimated; OR, odds ratio; PI, posterior interval; PLR, posterior limit ratio; SNP, single nucleotide polymorphism.
a Odds ratios from initial GWAS or candidate gene meta-analyses (if met criteria for cumulative evidence of association); all odds ratios for log-additive genetic models, unless otherwise specified. Those without values are not GWAS hits and were not included in the candidate gene meta-analysis.
b Adjusted for age at diagnosis (cases) or selection (controls) and proportion of African ancestry.
c Adjusted for age at diagnosis (cases) or selection (controls), proportion of African ancestry, and other SNPs in the LD block.
d Previous GWAS hit.
e Cumulative evidence of an association in the meta-analysis by Zhang et al. (40).
f Other GWAS-identified gene.
g Odds ratio estimated using general genetic model.