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. 2023 Dec 22;10(1):e23677. doi: 10.1016/j.heliyon.2023.e23677

Table 2.

Results of association analyses of 23 ASD-related genome-wide SNPs in 757 Han Chinese autism trios by FBAT.

SNP Location Gene Allele AFreq T:Ua Addictive model
 Recessive model
Fam Z Pb Fam Z Pb
rs910805 20:21248116 near XRN2 A 0.791 249:237 404 0.544 0.5862 380 0.580 0.5618
G 0.209 237:249 404 −0.544 0.5862 106 −0.108 0.9139
rs1452075 3:62481063 CADPS C 0.296 304:310 487 −0.242 0.8087 173 0.547 0.5844
T 0.704 310:304 487 0.242 0.8087 441 0.618 0.5366
rs325506 5:104012303 near NUDT12 C 0.576 358:359 552 −0.037 0.9702 415 0.388 0.6981
G 0.424 359:358 552 0.037 0.9702 302 0.526 0.5986
rs1620977 1:72729142 NEGR1 A 0.163 200:186 328 0.661 0.5087 74 0.715 0.4749
G 0.837 186:200 328 −0.661 0.5087 313 −0.434 0.6641
rs10149470 14:104017953 near COA8 A 0.584 346:353 519 −0.265 0.7912 410 0.105 0.9166
G 0.416 353:346 519 0.265 0.7912 289 0.576 0.5645
rs880446 20:62133177 near EEF1A2 A 0.463 368:353 560 0.559 0.5764 335 −0.612 0.5408
G 0.537 353:368 560 −0.559 0.5764 386 −1.371 0.1703
rs4904167 14:84700744 - C 0.281 271:301 468 −1.254 0.2097 156 −1.228 0.2195
T 0.719 301:271 468 1.254 0.2097 416 0.810 0.4178
rs4322805 2:183535884 near PDE1A A 0.506 359:353 540 0.225 0.8221 357 −0.395 0.6928
G 0.494 353:359 540 −0.225 0.8221 355 −0.736 0.4617
rs6780942 3:117828678 near IGSF11 C 0.644 313:316 492 −0.120 0.9048 403 −0.234 0.8147
T 0.356 316:313 492 0.120 0.9048 226 −0.108 0.9137
rs9360557 6:73132745 near KCNQ5 C 0.621 309:279 457 1.237 0.2160 369 0.900 0.3682
G 0.379 279:309 457 −1.237 0.2160 219 −0.989 0.3226
rs6125656 20:48090779 KCNB1 A 0.069 96:97 185 −0.072 0.9426 9 – –
G 0.931 97:96 185 0.072 0.9426 184 0.000 1.0000
rs11570190 11:57560452 CTNND1 A 0.846 176:194 316 −0.936 0.3494 309 −0.698 0.4851
C 0.154 194:176 316 0.936 0.3494 61 0.871 0.3840
rs1484144 4:80217597 NAA11 C 0.244 202:269 377 −3.087 0.0020 118 −2.572 0.0101
T 0.756 269:202 377 3.087 0.0020 353 2.314 0.0207
rs9787523 10:106460460 SORCS3 C 0.679 330:293 483 1.441 0.1495 420 0.535 0.5924
T 0.321 293:330 483 −1.441 0.1495 204 −1.963 0.0496
rs7531118 1:72837239 near NEGR1 C 0.283 319:281 477 1.509 0.1312 161 0.965 0.3347
T 0.717 281:319 477 −1.509 0.1312 440 −1.286 0.1986
rs79879286 7:24826589 near GSDME C 0.048 54:77 126 −2.010 0.0445 5 – -
G 0.952 77:54 126 2.010 0.0445 126 2.194 0.0283
rs9375225 6:98588754 near MMS22L G 0.594 323:312 465 0.437 0.6625 374 −0.384 0.7006
T 0.406 312:323 465 −0.437 0.6625 261 −1.218 0.2233
rs746839 8:142617261 near MROH5 C 0.831 175:194 325 −0.880 0.3787 315 −0.402 0.6876
G 0.169 194:175 325 0.880 0.3787 58 1.474 0.1403
rs11242522 5:103904914 – C 0.406 370:344 542 0.973 0.3305 292 1.521 0.1283
T 0.594 344:370 542 −0.973 0.3305 422 −0.103 0.9182
rs7499750 16:13749265 – A 0.107 125:126 220 −0.063 0.9497 31 −0.311 0.7557
C 0.893 126:125 220 0.063 0.9497 220 −0.034 0.9726
rs13236223 7:140666965 near MRPS33 C 0.103 142:131 247 0.666 0.5056 29 −0.843 0.3991
T 0.897 131:142 247 −0.666 0.5056 244 −0.973 0.3304
rs6961430 7:110058448 – C 0.197 217:224 377 −0.333 0.7389 86 −0.478 0.6326
G 0.803 224:217 377 0.333 0.7389 355 0.163 0.8706
rs7188257 16:6314935 near RBFOX1 C 0.219 215:240 375 −1.024 0.3061 113 −0.995 0.3200
T 0.781 240:215 375 1.024 0.3061 349 0.691 0.4896

Abbreviations: SNP, single nucleotide polymorphism; Position referenced the NCBI human reference genome GRCh37/hg19; AFreq, allele frequency; Fam, number of informative families; S, test statistics for the observed number of transmitted alleles; E(S), the expected value of S under the null hypothesis (i.e., no linkage and no association).

a

The ratio of transmission to untransmission (T:U) for each selected SNP was calculated by the Haploview version 4.2.

b

P value with bold character means nominally associated with autism (P < 0.05).