Table 1.
Allele and genotype distributions of rs2282679, rs7041, and rs4588 SNPs in ASD children and healthy controls (HC).
| Allele Frequency | Continental ASD N (%) | Sardinian ASD N (%) | p Value | ASD N (%) | HC N (%) | p Value |
|---|---|---|---|---|---|---|
| rs2282679 | ||||||
| T | 265 (75.7) | 198 (73.8) | 463 (74.9) | 1223 (73.6) | ||
| G | 85 (24.3) | 70 (26.2) | 0.6 | 155 (25.1) | 439 (26.4) | 0.5 |
| rs7041 | ||||||
| A | 157 (44.8) | 111 (41.4) | 268 (43.4) | 680 (40.9) | ||
| C | 193 (55.2) | 157 (58.2) | 0.4 | 350 (56.6) | 982 (59.1) | 0.3 |
| rs4588 | ||||||
| T | 83 (23.7) | 70 (26.1) | 153 (26.1) | 439 (26.4) | ||
| G | 267 (76.3) | 198 (73.9) | 0.5 | 465 (75.3) | 1223 (73.6) | 0.42 |
| Total | 350 | 268 | 618 | 1662 | ||
| Genotype frequency | ||||||
| rs2282679 | ||||||
| TT | 101 (57.7) | 72 (57.7) | 173 (56.0) | 447 (53.8) | ||
| GT | 63 (36.0) | 54 (40.3) | 117 (37.9) | 329 (39.6) | ||
| GG | 11 (6.3) | 8 (6.0) | 0.7 | 19 (6.1) | 55 (6.6) | 0.8 |
| rs7041 | ||||||
| AA | 37 (21.1) | 23 (17.2) | 60 (19.4) | 134 (16.1) | ||
| AC | 83 (47.4) | 65 (48.5) | 148 (47.9) | 412 (49.6) | ||
| CC | 55 (31.4) | 46 (34.3) | 0.6 | 101 (32.7) | 285 (34.3) | 0.4 |
| rs4588 | ||||||
| TT | 10 (5.7) | 8 (6.0) | 18 (5.8) | 54 (6.5) | ||
| GT | 63 (36.0) | 54 (40.3) | 117 (37.9) | 331 (39.8) | ||
| GG | 102 (58.3) | 72 (53.7) | 0.7 | 174 (56.3) | 446 (53.7) | 0.7 |
| Total | 175 | 134 | 309 | 831 |
N: absolute number of alleles/genotypes, %: allele/genotype frequency, ASD: autism spectrum disorders.