Table 2. Transmission disequilibrium test results for HTR2A polymorphisms in 158 CORA Trios.
Gene | dbSNP IDa | Minor Allele |
Major Allele |
HapMap CEU MAF |
ASD MAF |
Parent MAF |
Total Trios |
TDT Allele |
Trans | Untrans | Chi Sq | p-value | Permuted p-valueb |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HTR2A | rs6311 | A | G | 0.465 | 0.364 | 0.435 | 158 | A | 58 | 103 | 12.58 | 0.0004 | 0.0004 |
Excluding samples with pathogenic or likely pathogenic mutationsc | 146 | A | 54 | 95 | 11.28 | 0.0008 | 0.0011 | ||||||
HTR2A | rs6314 | T | C | 0.062 | 0.117 | 0.106 | 158 | T | 34 | 27 | 0.80 | 0.3701 | 0.6417 |
Excluding samples with pathogenic or likely pathogenic mutationsc | 146 | T | 32 | 25 | 0.86 | 0.3538 | 0.6174 |
National Center for Biotechnology Information (NCBI) dbSNP build 137
corrected p-value after 10,000 permutations
includes PTEN and 22q11.2 mutations and samples listed in Supplemental Table 1.
Abbreviations – CEU: HapMap CEPH (Utah Residents with Northern and Western European Ancestry) population; CORA: Central Ohio Registry for Autism; MAF: minor allele frequency; TDT: transmission disequilibrium test; Trans: transmitted; Untrans: untransmitted