Table 3. Loci identified in age at onset analysis.
Discovery | Replication | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Variant | Positiona | Major/ minor allele |
Locus name |
MAF patients/controls |
Association | MAF patients/controls |
Association | Meta-analysisb | ||||
Beta (95%CI) |
P | Beta (95%CI) |
P | Beta (95%CI) |
P | I2 | ||||||
rs116316277 | 2:185834886 | C/T | ZNF804A | 0·03 | 8·09(4·72 − 11·6) | 3·58×10−6 | 0·08 | −1·03(-6·79 − 4·72) | 7·26 × 10−1 | 5·76(2·85 − 8·67) | 1·04×10−4 | 86·1 |
rs6809184 | 3:170888198 | C/T | TNIK | 0·05 | −6·78(−9·24 – −4·32) | 1·22×10−7 | 0·09 | −0·54(−5·29 − 4·21) | 8·24 × 10−1 | −5·46(−7·64 – −3·27) | 1·01×10−6 | 80·9 |
rs12189587 | 6:165332257 | C/T | C6orf11 | 0·11 | −4·05(−5·76 – −2·34) | 4·83×10−6 | 0·13 | 1·4(−2·32 − 5·11) | 4·62 × 10−1 | −3·1(−4·65 – −1·54) | 9·44×10−5 | 85·3 |
rs6962939 | 7:7524226 | T/A | COL28A1 | 0·04 | −6·02(−8·61 – −3·43) | 7·00×10−6 | 0·06 | −6·15(−12·56 − 0·25) | 6·13 × 10−2 | −6·04(−8·43 – −3·64) | 8·18×10−7 | 0 |
rs2922921 | 7:96398079 | G/A | SHFM1 | 0·02 | 9·65(5·58 − 13·72) | 4·65×10−6 | 0·06 | −0·54(−7·77 − 6·7) | 8·84 × 10−1 | 7·20(3·65 − 10·75) | 6·93×10−5 | 82·7 |
rs77466830 | 7:151529171 | C/A | PRKAG2 | 0·32 | 2·91(1·64 − 4·18) | 9·49×10−6 | 0·43 | −0·13(−2·36 − 2·11) | 9·12 × 10−1 | 2·17(1·06 − 3·27) | 1·18×10−4 | 81·3 |
rs9792144 | 8:53081551 | C/G | ST18 | 0·12 | 3·99(2·30 − 5·68) | 4·88×10−6 | 0·18 | 2·99(−0·26 − 6·24) | 7·28 × 10−2 | 3·78(2·28 − 5·28) | 7·55×10−7 | 0 |
rs3922636 | 8:80383502 | G/A | STMN2 | 0·19 | 3·28(1·89 − 4·67) | 5·08×10−6 | 0·31 | 0·49(−2·23 − 3·21) | 7·23 × 10−1 | 2·70(1·47 − 3·94) | 1·83×10−5 | 68·4 |
rs12943707 | 17:73317510 | C/G | GRB2 | 0·29 | −2·8(−4·00 – −1·6) | 6·40×10−6 | 0·4 | −0·41(−2·80 − 1·98) | 7·38 × 10−1 | −2·32(−3·39 – −1·25) | 2·22×10−5 | 67·5 |
rs1561819 | 18:2712629 | G/A | SMCHD1 | 0·49 | −2·41(−3·46 – −1·36) | 8·96×10−6 | 0·51 | −0·81(−2·97 − 1·35) | 4·61 × 10−1 | −2·11(−3·05 – −1·16) | 1·23×10−5 | 41·5 |
rs6108746 | 20:10902771 | T/C | JAG1 | 0·19 | 3·54(2·19 − 4·89) | 4·23×10−7 | 0·25 | 1·69(−1·11 − 4·48) | 2·38 × 10−1 | 3·19(1·98 − 4·41) | 2·59×10−7 | 27·4 |
rs6111609 | 20:17664546 | C/A | RRBP1 | 0·22 | 2·86(1·61 − 4·11) | 9·83×10−6 | 0·22 | 2·88(−0·03 − 5·8) | 5·41 × 10−2 | 2·86(1·71 − 4·01) | 1·05×10−6 | 0 |
Positions are based on the Human Genome version 38 (hg38).
For SNPs with I2 >0.3, a random effects meta-analysis was also performed. The p-values were generally larger in the random effects meta-analysis, and the results were consistent with the fixed effects, showing that none of these SNPs were significantly associated with the outcome.