Table 2.
GC isoform genotype and phenotype distribution in ASD children and healthy controls (HC).
| Isoform | Genotype (rs7041/rs4588) | ASD N (%) | HC N (%) | p | OR, 95% IC |
|---|---|---|---|---|---|
| GC1s | C/G | 350 (56.6) | 1002 (60.3) | ||
| GC1f | A/G | 115 (18.6) | 241 (14.5) | 0.01, pc = 0.02 | 1.367, (1.07–1.74) |
| GC2 | A/T | 153 (24.8) | 439 (26.4) | ||
| 0.04 | |||||
| Isoform phenotype | |||||
| GC1f-GC1f | A/G-A/G | 8 (2.6) | 16 (1.9) | ||
| GC1f-GC1s | A/G-C/G | 65(21.0) | 145 (17.4) | ||
| GC1s-GC1s | C/G-C/G | 101 (32.7) | 285 (34.3) | ||
| GC1f-GC2 | A/G-A/T | 34(11.0) | 64 (7.7) | ||
| GC1s-GC2 | C/G-A/T | 83(26.9) | 267 (32.1) | ||
| GC2-GC2 | A/T-A/T | 18 (5.8) | 54 (6.5) | ||
| 0.2 |
N: absolute number of genotype/isoform phenotype, %: genotype/isoform phenotype frequency, p: uncorrected p value, pc: p value after Bonferroni’s correction for degree of freedom (DF), OR: odds ratio, 95% IC: interval of confidence.