Table 2.
Genetic variants identified in GWAS that achieved a significance of at least 5 × 10−5 in the logistic regression analysis.
| CHR | SNV | Gene | Allele | AF | Analysis 1 | Discovery p-Value | Cohort OR [95% CI] |
Replication p-Value |
Cohort OR [95% CI] |
|---|---|---|---|---|---|---|---|---|---|
| 1 | rs11185202 | 74 kb from AMY1C, 136 kb from AMY1B | T | 0.41 | Case-Control | 2.13 × 10−5 | 0.36 [0.23–0.58] | 0.88 | 0.96 [0.57–1.61] |
| 1 | rs66539320 | lncRNA | G | 0.18 | Case-Control | 3.72 × 10−5 | 0.33 [0.19–0.56] | 0.56 | 1.24 [0.60–2.54] |
| 1 | rs382092 | lncRNA | T | 0.36 | Extreme Phenotypes | 2.32 × 10−5 | 4.03 [2.11–7.68] | 0.31 | 0.57 [0.19–1.68] |
| 2 | rs17687727 | lncRNA | A | 0.16 | Extreme Phenotypes | 4.73 × 10−5 | 4.92 [2.29–10.66] | 0.80 | 1.17 [0.34–4.07] |
| 4 | rs2270271 | GPR78 | T | 0.46 | Case-Control | 1.51 × 10−5 | 0.38 [0.25–0.59] | 0.84 | 0.95 [0.58–.’54] |
| 9 | rs377186 | RCL1 | A | 0.44 | Case-Control | 1.50 × 10−5 | 0.35 [0.22–0.57] | 0.38 | 0.81 [0.50–1.30] |
| 13 | rs8000668 | 98 kb from ARHGEF7, and 101 kb from ANKRD10 | T | 0.52 | Case-Control | 2.50 × 10−5 | 0.40 [0.26–0.62] | 0.41 | 0.79 [0.46–1.38] |
| 19 | rs62134260 | 4 kb from POLRMT, and 2 kb from FGF22 | G | 0.16 | Case-Control | 2.37 × 10−5 | 4.13 [2.14–7.97] | 0.48 | 1.27 [0.65–2.47] |
| Extreme Phenotypes | 2.23 × 10−5 | 5.76 [2.56–12.93] | 0.021 | 8.2 [1.36–49.35] | |||||
| 20 | rs6099854 | 225 kb from PMEPA1, and 214 kb from C20orf85 | A | 0.14 | Extreme Phenotypes | 3.77 × 10−5 | 6.57 [2.69–16.09] | 0.42 | 0.42 [0.05–3.47] |
1 Case-Control (Controls against Mild and Severe Cases, Discovery Cohort N = 226, Replication Cohort N = 123), Extreme Phenotypes (Controls against Severe Cases, Discovery Cohort N = 135, Replication Cohort N = 77). Abbreviations: AF, Allele Frequency in European Population; OR, Odds Ratio; CI, Confidence Interval; N, Sample Size; Kb, Kilobases; CHR, Chromosome; SNV, Single-nucleotide variant. Cumulative dose is used as covariate in each analysis. Significant p-values in the replication cohort (p-value < 0.05) are highlighted in bold.