Table 5.
Testing for excess transmission of haplotypes of SNPs rs880810 and rs618941 in PAX7 and SNPs rs4674639 and rs930140 in PAX3 in 297 CL/P case–parent trios using the program FAMHAP with maternal and paternal transmission considered separately
| Gene | Population | Haplotype | Frequency | Maternal | Paternal | ||||
|---|---|---|---|---|---|---|---|---|---|
| T | NT | Maximum TDT (P-value) | T | NT | Maximum TDT (P-value) | ||||
| PAX7 | Asian_combined | 2 1 | 0.591 | 44.9 | 53.0 | 4.803 (0.049) | 42.9 | 44.5 | 0.029 (0.996) |
| 2 2 | 0.280 | 48.2 | 29.0 | 40.0 | 38.6 | ||||
| 1 1 | 0.093 | 14.6 | 22.6 | 14.7 | 15.0 | ||||
| 1 2 | 0.036 | 5.4 | 8.5 | 5.5 | 5.0 | ||||
| Maryland | 2 1 | 0.863 | 2.0 | 10.0 | 5.333 (0.041) | 8.0 | 6.0 | 0.667 (0.782) | |
| 2 2 | 0.069 | 4.0 | 0.0 | 4.0 | 4.0 | ||||
| 1 1 | 0.069 | 6.0 | 2.0 | 2.0 | 4.0 | ||||
| PAX3 | Asian_combined | 1 2 | 0.584 | 58.4 | 36.0 | 5.331 (0.046) | 41.5 | 49.9 | 1.393 (0.557) |
| 2 1 | 0.305 | 36.0 | 53.4 | 41.9 | 41.5 | ||||
| 2 2 | 0.030 | 4.6 | 5.0 | 9.6 | 5.1 | ||||
| 1 1 | 0.081 | 14.1 | 18.5 | 16.1 | 12.6 | ||||
| Maryland | 1 2 | 0.468 | 15.3 | 9.0 | 2.954 (0.138) | 9.4 | 10.0 | 0.760 (0.780) | |
| 2 1 | 0.182 | 3.9 | 10.4 | 9.8 | 7.6 | ||||
| 2 2 | 0.027 | 0.7 | 2.0 | 0.6 | 2.0 | ||||
| 1 1 | 0.323 | 10.1 | 8.6 | 11.2 | 11.4 | ||||
Bold values represent results significant at the P<0.05 level.