Table 1.
Summary statistics for the logistic model correcting for ancestry background of the genome-wide significant associated risk variants in the European discovery and European replication cohorts, and corresponding meta-analysis
| SNP | Location (Chr:Pos [A]) |
Nearest Gene |
Function | European Discovery (N = 376 vs 3376) | European Replication (N = 59 vs 289) |
European Meta-Analysis | gnomAD | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OR (95% CI) |
P | AF CASE | AF CTRL |
OR (95% CI) | P | AF CASE |
AF CTRL |
OR (95% CI) [Direction of Effect] |
P | H | AF Eur |
||||
| rs4727341 | 7:96198615 [G] | SEM1 | Intronic | 0.48 (0.39-0.59) | 1.2 × 10−12 | 0.18 | 0.30 | 0.56 (0.34-0.93) | 0.02 | 0.21 | 0.34 | 0.49 (0.29-0.69) [−−] | 2.7 × 10−13 | 0.56 | 0.31 |
| rs17656761 | 7:96581553 [A] | DLX6-AS1 | Intergenic | 1.96 (1.61-2.38) | 1.1 × 10−11 | 0.22 | 0.13 | 1.31 (0.69-2.45) | 0.40 | 0.14 | 0.12 | 1.89 (1.69-2.09) [++] | 3.7 × 10−11 | 0.23 | 0.13 |
| rs12154925 | 7:96758550 [T] | SDHAF3 | Intronic | 1.87 (1.50-2.30) | 8.0 × 10−9 | 0.19 | 0.12 | 1.81 (0.97-3.35) | 0.06 | 0.15 | 0.09 | 1.86 (1.66-2.06) [++] | 2.4 × 10−9 | 0.92 | 0.13 |
| rs78353978 | 7:96945446 [A] | DLX5/TAC1 | Intergenic | 2.58 (1.88-3.55) | 5.9 × 10−9 | 0.07 | 0.03 | 1.82 (0.63-5.25) | 0.27 | 0.05 | 0.03 | 2.50 (2.19-2.81) [++] | 6.9 × 10−9 | 0.54 | 0.03 |
| rs7981517 | 13:101112917 [A] | PCCA/PCCA-AS1 | Intronic | 1.59 (1.34-1.90) | 1.7 × 10−7 | 0.31 | 0.22 | 1.91 (1.21-3.04) | 0.006 | 0.35 | 0.23 | 1.64 (1.47-1.79) [++] | 7.1 × 10−9 | 0.47 | 0.23 |
| rs33863 | 5:171166685 [A] | SM1M23/FGF18 | Intergenic | 1.53 (1.31-1.79) | 1.7 × 10−7 | 0.44 | 0.34 | 1.69 (1.09-2.62) | 0.02 | 0.51 | 0.35 | 1.55 (1.39 1.71) [++] | 1.7 × 10−8 | 0.69 | 0.35 |
| rs114264214 | 1:204310366 [A] | PLEKHA6 | Intronic | 3.57 (2.26-5.65) | 4.9 × 10−8 | 0.04 | 0.01 | 1.97 (0.47-8.20) | 0.35 | 0.03 | 0.01 | 3.37 (2.92-3.82) [++] | 7.3 × 10−8 | 0.44 | 0.01 |
We reported chromosome and genomic position in hg19 build (Chr:Pos), and the tested allele is reported in square brackets. P values in bold font are genome-wide statistically significant.
95% CI, 95% confidence intervals; AF CASE, minor allele frequency in cases; AF CTRL, minor allele frequency in controls; AF Eur, minor allele frequency in gnomAD for the European population; H, heterogeneity p-value; OR, odds ratio; P, P values are calculated by logistic regression analyses and corrected for population stratification with EIGENSTRAT axes within each cohort; SNP, single nucleotide polymorphism.