Table 1 Summary of mean effect size analyses
From: A comprehensive meta-analysis of common genetic variants in autism spectrum conditions
S. No | Gene | Variants | Allele | Global MAF | Data sets | Mean OR (95% CI) | Z-Value | P-Value | Model (I2 value) | Total cases | Total controls | Trios | PGC P-value | Effect direction (odds ratio) | Classic fail-safe N | Orwin's fail safe N (OR = 1.05 or 0.95) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | DRD3 | rs167771 | G vs A | G=0.4113 | 3 | 1.822 (1.398-2.375) | 4.44 | 9.08E-06 | Fixed effect (60) | 580 | 754 | 0 | 0.6 | discordant (0.980) | 7 | 34 |
2 | RELN | rs362691 | C vs G | C=0.1210 | 8 | 0.832 (0.763-0.908) | -4.11 | 3.93E-05 | Fixed effect (33.2) | 765 | 765 | 303 | NA | NA | 12 | 21 |
3 | SLC25A12 | rs2292813 | C vs T | T=0.2085 | 6 | 1.372 (1.161-1.621) | 3.72 | 1.97E-04 | Fixed effect (0) | 465 | 450 | 1220 | 0.78 | concordant (1.014) | 5 | 25 |
4 | CNTNAP2 | rs7794745 | A vs T | A=0.4946 | 4 | 0.887 (0.828-0.950) | -3.45 | 1.00E-03 | Fixed effect (21.2) | 322 | 524 | 2236 | 0.18 | concordant (0.9594) | 9 | 6 |
5 | SLC25A12 | rs2056202 | T vs C | T=0.2420 | 8 | 1.227 (1.079 -1.396) | 3.12 | 2.00E-03 | Fixed effect (6.5) | 756 | 1211 | 1220 | 0.99 | discordant (0.9993) | 6 | 26 |
6 | OXTR | rs2268491 | T vs C | T=0.2137 | 4 | 1.31 (1.092 -1.572) | 2.91 | 4.00E-03 | Fixed effect (0) | 282 | 440 | 458 | 0.54 | concordant (1.026) | 3 | 19 |
7 | EN2 | rs1861972 | A vs G | G=0.242 | 8 | 1.125 (1.035-1.224) | 2.75 | 6.00E-03 | Fixed effect (57.6) | 669 | 1704 | 953 | NA | NA | 16 | 12 |
8 | MTHFR | rs1801133 | T vs C | A=0.2454 | 10 | 1.370 (1.079-1.739) | 2.59 | 1.00E-02 | Random effects (88.2) | 2280 | 7235 | 0 | 0.57 | concordant (1.018) | 80 | 40 |
9 | ASMT | rs4446909 | G vs A | A=0.1741 | 5 | 1.195 (1.038-1.375) | 2.48 | 1.30E-02 | Fixed effect (0) | 1066 | 1074 | 0 | NA | NA | 3 | 14 |
10 | MET | rs38845 | A vs G | A=0.3634 | 3 | 1.322 (1.013-1.724) | 2.41 | 1.60E-02 | Random effects (66.5) | 405 | 594 | 419 | 0.2 | concordant (1.04) | 13 | 15 |
11 | SLC6A4 | rs2020936 | T vs C | G=0.228 | 4 | 1.244 (1.036-1.492) | 2.35 | 1.90E-02 | Fixed effect (33.9) | 0 | 0 | 1068 | 0.78 | concordant (1.01) | 3 | 14 |
12 | STX1A | rs4717806 | A vs T | A=0.2322 | 4 | 0.851 (0.741-0.978) | -2.28 | 2.30E-02 | Fixed effect (35.3) | 653 | 1007 | 375 | NA | NA | 0 | 9 |
13 | RELN | rs736707 | T vs C | G=0.3660 | 9 | 1.269 (1.030-1.563) | 2.24 | 2.50E-02 | Random effects (76.5) | 975 | 1695 | 196 | 0.31 | concordant (1.035) | 126 | 48 |
14 | PON1 | rs662 | A vs G | T=0.4571 | 3 | 0.794 (0.642-0.983) | -2.12 | 3.40E-02 | Fixed effect (17.5) | 334 | 641 | 0 | 0.07 | discordant (1.058) | 0 | 11 |
15 | OXTR | rs237887 | G vs A | G=0.3998 | 4 | 1.163 (1.002-1.349) | 1.99 | 4.70E-02 | Fixed effect (0) | 282 | 440 | 458 | 0.94 | concordant (1.002) | 0 | 9 |
16 | STX1A | rs6951030 | G vs T | G=0.1771 | 4 | 1.383 (0.995-1.922) | 1.93 | 5.40E-02 | Random effects (76.7) | 653 | 1007 | 375 | Â | Â | Â | Â |
17 | OXTR | rs2268493 | C vs T | C=0.2049 | 3 | 0.845 (0.701-1.019) | -1.76 | 7.80E-02 | Fixed effect (54.5) | 574 | 1201 | 0 | Â | Â | Â | Â |
18 | ASMT |  rs5989681  | G vs C | NA | 5 | 1.135 (0.984 - 1.308) | 1.74 | 8.20E-02 | Fixed effect (0) | 1066 | 1074 | 0 |  |  |  |  |
19 | HOXB1 | rs72338773*18 | INS vs nINS | NA | 8 | 1.36 (0.97-1.33) | NA | 1.18E-01 | Fixed Effect (NA) | 362 | 448 | 238 | Â | Â | Â | Â |
20 | RELN | rs2073559 | C vs T | C=0.4746 | 3 | 0.955 (0.900-1.014) | -1.5 | 1.35E-01 | Fixed effect (64.5) | 437 | 493 | 473 | Â | Â | Â | Â |
21 | RELN | GGC repeat*16 | NA | NA | 7 | 1.11 (0.80–1.54) | NA | 1.53E-01 | Fixed effect (0) | 878 | 1170 | 167 |  |  |  |  |
22 | GLO1 | rs2736654 | A vs C | G=0.2873 | 4 | 1.307 (0.882 - 1.936) | 1.34 | 1.82E-01 | Random effects (68.7) | 857 | 680 | 0 | Â | Â | Â | Â |
23 | PON1 | rs854560 | A vs T | T=0.1827 | 3 | 1.140 (0.931 - 1.395) | 1.27 | 2.05E-01 | Fixed effect (0) | 334 | 641 | 0 | Â | Â | Â | Â |
24 | TPH2 | rs11179000 | T vs A | T=0.3988 | 3 | 1.130 (0.934-1.366) | 1.26 | 2.08E-01 | Fixed effect (0) | 224 | 260 | 352 | Â | Â | Â | Â |
25 | MET | rs1858830 | G vs C | G=0.4575 | 8 | 0.905 (0.773-1.061) | -1.23 | 2.19E-01 | Random effect (67.5) | 1975 | 1589 | 798 | Â | Â | Â | Â |
26 | OXTR | rs2268490 | T vs C | T=0.2584 | 5 | 1.135 (0.920-1.400) | 1.18 | 2.38E-01 | Fixed effect (0) | 292 | 761 | 458 | Â | Â | Â | Â |
27 | OXTR | rs2301261 | A vs G | T=0.1248 | 4 | 1.127 (0.889-1.430) | 0.99 | 3.22E-01 | Fixed effect (39.1) | 650 | 1300 | 0 | Â | Â | Â | Â |
28 | HOXA1 | rs10951154 | G vs A | C=0.2192 | 13 | 0.925 (0.791-1.081) | -0.98 | 3.28E-01 | Fixed effect (35.7) | 705 | 998 | 425 | Â | Â | Â | Â |
29 | BDNF | rs6265 | G vs A | T=0.2013 | 3 | 0.919 (0.763-1.107) | -0.89 | 3.72E-01 | Fixed effect (0) | 303 | 469 | 140 | Â | Â | Â | Â |
30 | HTR2A | rs6311 | A vs G | T=0.4435 | 6 | 0.871 (0.643-1.181) | -0.89 | 3.74E-01 | Random effects (74.8) | 179 | 313 | 396 | Â | Â | Â | Â |
31 | ITGB3 | rs5918 | C vs T | C=0.0889 | 3 | 0.866 (0.630-1.191) | -0.88 | 3.77E-01 | Fixed effect (37.1) | 139 | 165 | 363 | Â | Â | Â | Â |
32 | MAOA | uVNTR | short vs long | NA | 3 | 0.781 (0.446 - 1.368) | -0.86 | 3.87E-01 | Random effects (72) | 436 | 469 | 0 | Â | Â | Â | Â |
33 | MACROD2 | rs4141463 | T vs C | C=0.3818 | 7 | 0.913 (0.734-1.135) | -0.82 | 4.11E-01 | Random effects (87.1) | 1170 | 35307 | 1158 | Â | Â | Â | Â |
34 | OXTR | rs2254298 | A vs G | A=0.2071 | 5 | 0.813 (0.489-1.352) | -0.8 | 4.25E-01 | Random effects (82.5) | 650 | 1306 | 57 | Â | Â | Â | Â |
35 | ASMT | Â rs6644635 | C vs T | NA | 4 | 1.056 (0.906 -1.230) | 0.69 | 4.88E-01 | Fixed effect (29.3) | 788 | 819 | 0 | Â | Â | Â | Â |
36 | SLC6A4 | rs2020942 | A vs G | T=0.2550 | 3 | 1.062 (0.881-1.281) | 0.63 | 5.28E-01 | Fixed effect (0) | 0 | 0 | 678 | Â | Â | Â | Â |
37 | OMG | rs11080149 | A vs G | T=0.0409 | 4 | 0.847 (0.477 - 1.506) | -0.56 | 5.72E-01 | Random effects (43.8) | 65 | 131 | 431 | Â | Â | Â | Â |
38 | ADA | rs7359837 | G vs A | A=0.0282 | 3 | 1.375 (0.401 - 4.717) | 0.51 | 6.13E-01 | Random effects (89.1) | 334 | 445 | 0 | Â | Â | Â | Â |
39 | OXTR | rs237894 | G vs C | C=0.1615 | 5 | 0.961 (0.818-1.129) | -0.48 | 6.26E-01 | Fixed effect (4) | 292 | 761 | 458 | Â | Â | Â | Â |
40 | OXTR | rs53576 | A vs G | A=0.3894 | 5 | 0.966 (0.839-1.113) | -0.48 | 6.31E-01 | Fixed effect (44.9) | 650 | 1300 | 57 | Â | Â | Â | Â |
41 | OXTR | rs2268494 | A vs T | A=0.0683 | 4 | 1.076 (0.760 -1.510) | 0.42 | 6.73E-01 | Fixed effect (0) | 76 | 99 | 458 | Â | Â | Â | Â |
42 | SLC6A4 | STin2 VNTR*17 | 12 vs 9/10 | NA | 8 | 1.129 (0.819–1.558) | NA | 6.73E-01 | Random effects (68.7) | 0 | 0 | 814 |  |  |  |  |
43 | NF1 | GxAlu | 9 vs non-9 | NA | 4 | 1.131 (0.633 - 2.022) | 0.42 | 6.77E-01 | Random effects (85.7) | 262 | 312 | 0 | Â | Â | Â | Â |
44 | GRIK2 | rs2227281 | T vs C | T=0.2738 | 4 | 0.929 (0.603-1.432) | -0.34 | 7.32E-01 | Random effects (77.3) | 0 | 0 | 508 | Â | Â | Â | Â |
45 | OXTR | rs2268495 | A vs G | A=0.2406 | 4 | 1.059 (0.763 - 1.468) | 0.34 | 7.33E-01 | Fixed effect (60.4) | 282 | 446 | 458 | Â | Â | Â | Â |
46 | SHANK3 | rs9616915 | C vs T | C=0.3433 | 3 | 0.974 (0.834 - 1.138) | -0.33 | 7.44E-01 | Fixed effect (60.1) | 340 | 863 | 308 | Â | Â | Â | Â |
47 | HTR2A | rs6314 | T vs G | A=0.0747 | 4 | 0.949 (0.691-1.304) | -0.32 | 7.47E-01 | Fixed effect (18.3) | 103 | 214 | 370 | Â | Â | Â | Â |
48 | CNTNAP2 | rs2710102 | T vs C | A=0.4113 | 3 | 0.989 (0.924-1.059) | -0.31 | 7.60E-01 | Fixed effect (17.3) | 322 | 524 | 2051 | Â | Â | Â | Â |
49 | OXTR | rs237885 | G vs T | G=0.4884 | 6 | 0.981 (0.868 - 1.109) | -0.3 | 7.62E-01 | Fixed effect (0) | 574 | 1201 | 458 | Â | Â | Â | Â |
50 | COMT | rs4680 | Met vs Val (A vs G) | A=0.3692 | 5 | 0.982 (0.851-1.134) | -0.24 | 8.08E-01 | Fixed effect (49) | 814 | 741 | 35 | Â | Â | Â | Â |
51 | MTHFR | rs1801131 | C vs A | G=0.2494 | 6 | 0.979 (0.824-1.164) | -0.24 | 8.11E-01 | Random effects (56.3) | 1854 | 6819 | 0 | Â | Â | Â | Â |
52 | OXTR | rs1042778 | G vs A | T=0.4109 | 4 | 1.02 (0.849-1.225) | 0.21 | 8.33E-01 | Fixed effect (0) | 282 | 440 | 458 | Â | Â | Â | Â |
53 | GRIK2 | rs2227283 | A vs G | A=0.3275 | 4 | 0.967 (0.686-1.363) | -0.19 | 8.51E-01 | Random effects (65.65) | 0 | 0 | 508 | Â | Â | Â | Â |
54 | EN2 | rs3735653 | T vs C | T=0.4097 | 4 | 1.007 (0.870-1.165) | 0.09 | 9.28E-01 | Fixed effect (0) | 174 | 349 | 499 | Â | Â | Â | Â |
55 | NF1 | GxAlu | 8 vs non-8 | NA | 4 | 0.982 (0.602 - 1.601) | -0.07 | 9.41E-01 | Random effects (79.2) | 262 | 312 | 0 | Â | Â | Â | Â |
56 | SLC6A4 | 5-HTTLPR | short vs long | NA | 17 | 0.994 (0.847-1.167) | -0.07 | 9.42E-01 | Random effects (63.8) | 0 | 0 | 2039 | Â | Â | Â | Â |
57 | HTR2A | rs6313 | T vs C | A=0.4413 | 3 | 1.007 (0.812-1.249) | 0.07 | 9.47E-01 | Fixed effect (0) | 0 | 0 | 303 | Â | Â | Â | Â |
58 | EN2 | rs1861973 | T vs C | T=0.2410 | 6 | 1.004 (0.775-1.300) | 0.03 | 9.77E-01 | Random effects (80.8) | 669 | 1704 | 681 | Â | Â | Â | Â |