Table 4. Genotyping of the six novel rare missense variations in the follow-up study.
| Sample | Gene | Protein | ASD | Control | Allelic p | OR | 95% CI | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1/1 a | 1/2 a | 2/2 a | MAF | 1/1 a | 1/2 a | 2/2 a | MAF | ||||||
| Niigata | SLC7A11 | G77S | 241 | 0 | 0 | 0 | 667 | 0 | 0 | 0 | - | - | - |
| ICA1 | G167A | 240 | 0 | 0 | 0 | 667 | 0 | 0 | 0 | - | - | - | |
| DNAJC1 | A508G | 240 | 0 | 0 | 0 | 667 | 0 | 0 | 0 | - | - | - | |
| C1S | P197S | 240 | 0 | 0 | 0 | 665 | 2 | 0 | 0.0015 | 1.00 | 0 | - | |
| TRAPPC12 | E297Q | 240 | 0 | 0 | 0 | 666 | 1 | 0 | 0.0007 | 1.00 | 0 | - | |
| CLN8 | R24H | 240 | 1 | 0 | 0.0021 | 666 | 1 | 0 | 0.0007 | 0.46 | 2.8 | 0.2–44.4 | |
| Nagoya | CLN8 | R24H | 309 | 0 | 0 | 0 | 350 | 0 | 0 | 0 | - | - | - |
| Combined | CLN8 | R24H | 549 | 1 | 0 | 0.0009 | 1016 | 1 | 0 | 0.0005 | 1.00 | 1.8 | 0.1–29.6 |
ASD, autism spectrum disorder; CI, confidence interval; MAF, mutant allele frequency; OR, odds ratio.
aGenotypes: reference and mutant alleles are denoted by 1 and 2, respectively.