Table 2. Results of association between 5 SNPs in ATP2B2 and autism and haplotype analyses in 427 trios of Han Chinese descent.
Marker | Allele | Afreq | Additive model | Dominant model | ||||||||
Families | S- E(S) | Var(S) | Z | p | Families | S- E(S) | Var(S) | Z | p | |||
rs35678 | C | 0.429 | 287 | −9 | 94.5 | −0.926 | 0.355 | 216 | −4.8 | 48.3 | −0.683 | 0.494 |
T | 0.571 | 287 | 9 | 94.5 | 0.926 | 162 | 4.2 | 34.8 | 0.720 | 0.471 | ||
rs241509 | A | 0.549 | 302 | −1.5 | 102.8 | −0.148 | 0.882 | 181 | 7.2 | 38.4 | 1.169 | 0.242 |
C | 0.451 | 302 | 1.5 | 102.8 | 0.148 | 230 | 8.7 | 50.7 | 1.229 | 0.219 | ||
rs3774180 | C | 0.551 | 296 | −6.5 | 98.3 | −0.656 | 0.512 | 173 | −1.8 | 37.2 | −0.287 | 0.774 |
T | 0.449 | 296 | 6.5 | 98.3 | 0.656 | 220 | 4.7 | 48.9 | 0.679 | 0.497 | ||
rs3774179 | C | 0.191 | 211 | −19.5 | 61.8 | −2.482 | 0.013 | 202 | −18 | 48.3 | −2.591 | 0.0096 |
T | 0.809 | 211 | 19.5 | 61.8 | 2.482 | 45 | 1.5 | 9.0 | 0.500 | 0.617 | ||
rs2278556 | A | 0.595 | 305 | 1.5 | 95.3 | 0.154 | 0.878 | 149 | −5.5 | 32.5 | −0.965 | 0.335 |
G | 0.405 | 305 | −1.5 | 95.3 | −0.154 | 232 | −7.0 | 53.3 | −0.959 | 0.337 | ||
Marker | Haplotype | Afreq | Families | S- E(S) | Var(S) | Z | p | Global | p permutation a | p permutation (whole marker) | ||
χ2 | p | |||||||||||
rs3774180–rs3774179 | ||||||||||||
C-C | 0.185 | 198.6 | −15.8 | 60.3 | −2.037 | 0.042 | 8.95 | 0.030 | 0.042 | 0.040 | ||
C-T | 0.362 | 271.1 | 9.3 | 86.9 | 1.000 | 0.317 | 0.316 | |||||
T-T | 0.447 | 286.5 | 9.7 | 96.5 | 0.985 | 0.325 | 0.320 | |||||
rs3774179–rs2278556 | ||||||||||||
C-A | 0.183 | 201.8 | −17.0 | 59.4 | −2.206 | 0.027 | 8.32 | 0.040 | 0.027 | 0.035 | ||
T-A | 0.410 | 279.1 | 20.5 | 91.5 | 2.143 | 0.032 | 0.032 | |||||
T-G | 0.400 | 294.5 | −1 | 92.8 | −0.104 | 0.917 | 0.905 | |||||
rs3774180–rs3774179–rs2278556 | ||||||||||||
C-C-A | 0.182 | 197.2 | −16.1 | 58.2 | −2.117 | 0.034 | 9.14 | 0.104 | 0.033 | 0.202b | ||
C-T-A | 0.337 | 246.1 | 13.1 | 80.6 | 1.464 | 0.143 | 0.149 | |||||
T-T-G | 0.371 | 260.4 | 3.6 | 88.3 | 0.375 | 0.708 | 0.686 | |||||
T-T-A | 0.074 | 102.8 | 6.1 | 28.0 | 1.155 | 0.248 | 0.249 |
Afreq, allele frequency; Families, number of informative families; S, test statistics for the observed number of transmitted alleles; E(S), expected value of S under the null hypothesis (i.e., no linkage and no association).
The number of permutationS is 10,000;
whole marker permutation test using minimal p (when only one haplotype was significant).