Table 1.
Novel recessively acting variants
| OR (95% CI), P value | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Discovery | Replication | Combined | |||||||
| Variant (position)* | Major allele | Minor allele | MAF | Nearest gene | Additive | Recessive | Recessive | Recessive | Dominance deviation P value |
| rs115018790 (5:52088271) | G | A | 0.04 | PELO | 1.07 (1.02–1.12), 0.004 | 2.63 (2.03–3.41), 3 × 10−13 | 2.37 (1.55–3.62), 6 × 10−5 | 2.56 (2.05–3.19), 1 × 10−16 | 3 × 10−11 |
| rs140453320 (5:64485239) | T | C | 0.01 | ADAMTS6 | 1.03 (0.95–1.11), 0.49 | 6.94 (3.63–13.27), 5 × 10−9 | 1.18 (0.23–6.07), 0.84 | 5.46 (2.99–9.98), 3 × 10−8 | 5 × 10−8 |
| rs2714337 (6:7240577) | A | T | 0.35 | RREB1 | 1.06 (1.04–1.08), 1 × 10−10 | 1.12 (1.08–1.16), 3 × 10−9 | 1.10 (1.06–1.15), 5 × 10−6 | 1.11 (1.08–1.14), 7 × 10−14 | 0.02 |
| rs755900673 (8:2008956) | TC | T | 0.36 | MYOM2 | 1.04 (1.02–1.06), 3 × 10−5 | 1.13 (1.08–1.17), 5 × 10−9 | 1.01 (0.96–1.06), 0.64 | 1.08 (1.05–1.12), 2 × 10−6 | 6 × 10−4 |
| rs33932777 (10:12311465) | G | A | 0.50 | CDC123 | 1.06 (1.04–1.08), 8 × 10−11 | 1.11 (1.07–1.14), 9 × 10−12 | 1.07 (1.03–1.11), 4 × 10−5 | 1.09 (1.07–1.12), 4 × 10−15 | 0.01 |
*
Position is from genome assembly GRCh37 (hg19). For replication, variant rs140453320 was only assessed in the FinnGen cohort, because there were only three homozygotes in the Danish cohort. Dominance deviation P values were calculated in the UK Biobank and GERA cohorts and meta-analyzed.