Table 1 Summary results for newly identified risk loci
Nearest genea | Risk allele (frequency) | Discovery GWAS meta-analysis | UK Replication 1 | UK Replication 2 | Meta-analysis | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Position (hg19, bp) | P-value | OR (95% CI) | P-value | OR (95% CI) | P-value | OR (95% CI) | P-value | OR (95% CI) | I2 (%) | P het | |||
3q28, rs4459895 | LPP | A (0.20) | 187954414 | ||||||||||
cHL | 4.16 × 10−10 | 1.27 (1.18–1.36) | 6.85 × 10−9 | 1.44 (1.27–1.63) | 0.02 | 1.26 (1.04–1.52) | 4.45 × 10−18 | 1.30 (1.23–1.38) | 13 | 0.33 | |||
NSHL | 9.16 × 10−9 | 1.37 (1.23–1.53) | 1.37 × 10−8 | 1.43 (1.26–1.62) | 0.04 | 1.30 (1.02–1.66) | 9.43 × 10−17 | 1.39 (1.28–1.50) | 0 | 0.93 | |||
MCHL | 0.92 | 1.04 (0.91–1.19) | 0.98 | 1.00 (0.68–1.47) | 0.55 | 1.04 (0.92–1.19) | 0 | 0.82 | |||||
6q22.33, rs9482849 | PTPRK | C (0.17) | 128288536 | ||||||||||
cHL | 5.02 × 10−8 | 1.24 (1.15–1.35) | 0.13 | 1.11 (0.97–1.27) | 0.13 | 1.17 (0.95–1.43) | 1.52 × 10−8 | 1.20 (1.13–1.28) | 3 | 0.39 | |||
NSHL | 2.91 × 10−6 | 1.32 (1.17–1.48) | 0.17 | 1.10 (0.96–1.25) | 0.20 | 1.19 (0.91–1.54) | 4.13 × 10−6 | 1.21 (1.12–1.33) | 10 | 0.35 | |||
MCHL | 0.17 | 1.11 (0.96–1.28) | 0.78 | 1.06 (0.70–1.61) | 0.16 | 1.10 (0.96–1.26) | 0 | 0.97 | |||||
6q23.3, rs6928977 | AHI1 | G (0.57) | 135626348 | ||||||||||
cHL | 1.66 × 10−8 | 1.18 (1.12–1.26) | 0.01 | 1.14 (1.03–1.26) | 0.05 | 1.16 (1.00–1.34) | 1.24 × 10−10 | 1.17 (1.12–1.23) | 0 | 0.85 | |||
NSHL | 9.34 × 10−10 | 1.31 (1.20–1.42) | 0.03 | 1.12 (1.01–1.24) | 0.01 | 1.30 (1.06–1.58) | 4.62 × 10−11 | 1.23 (1.16–1.31) | 26 | 0.25 | |||
MCHL | 0.24 | 1.06 (0.96–1.18) | 0.69 | 1.06 (0.79–1.42) | 0.22 | 1.06 (0.96–1.17) | 0 | 0.22 | |||||
10p14, rs3781093 | GATA3 | T (0.88) | 8101927 | ||||||||||
cHL | 4.89 × 10−12 | 1.35 (1.23–1.47) | 4.00 × 10−4 | 1.32 (1.25–1.44) | 0.11 | 1.21 (0.96–1.52) | 4.91 × 10−12 | 1.28 (1.19–1.37) | 64 | 0.01 | |||
NSHL | 9.16 × 10−12 | 1.53 (1.36–1.75) | 2.00 × 10−4 | 1.44 (1.31–1.61) | 0.64 | 0.92 (0.68–1.26) | 9.49 × 10−13 | 1.39 (1.28–1.53) | 61 | 0.06 | |||
MCHL | 0.03 | 1.18 (1.02–1.36) | 0.05 | 1.56 (1.02–2.40) | 0.16 | 0.91 (0.79–1.04) | 73 | 0.03 | |||||
13q34, rs112998813 | UPF3A | C (0.08) | 115059729 | ||||||||||
cHL | 3.63 × 10−3 | 1.19 (1.06–1.33) | 0.03 | 1.23 (1.03–1.47) | 0.43 | 1.12 (0.84–1.50) | 2.70 × 10−4 | 1.19 (1.08–1.30) | 13 | 0.32 | |||
NSHL | 8.43 × 10−8 | 1.58 (1.34–1.88) | 0.03 | 1.22 (1.02–1.47) | 0.28 | 1.23 (0.85–1.78) | 4.58 × 10−8 | 1.39 (1.23–1.56) | 27 | 0.24 | |||
MCHL | 0.92 | 0.99 (0.80–1.22) | 0.27 | 1.35 (0.80–2.23) | 0.75 | 1.03 (0.85–1.25) | 0 | 0.56 | |||||
16p13.13, rs34972832 | CLEC16A | A (0.18) | 11198938 | ||||||||||
cHL | 1.45 × 10−4 | 1.15 (1.07–1.23) | 6.34 × 10−3 | 1.18 (1.05–1.34) | 0.10 | 1.17 (0.97–1.42) | 8.03 × 10−7 | 1.16 (1.09–1.23) | 6 | 0.37 | |||
NSHL | 7.47 × 10−7 | 1.24 (1.15–1.34) | 6.53 × 10−3 | 1.30 (1.17–1.45) | 0.28 | 1.15 (0.89–1.50) | 2.12 × 10−8 | 1.24 (1.15–1.34) | 37 | 0.18 | |||
MCHL | 0.65 | 0.97 (0.85–1.11) | 0.91 | 1.02 (0.69–1.52) | 0.70 | 0.98 (0.86–1.10) | 0 | 0.94 |