Table I.
Family based association analysis for Iowa case triads for all cleft sub-types using markers for PAX7 and VAX1.
| Gene | SNP | CLP (Na=65) | CLO (N=46) | CL(P)b (N=114) | CPO (N=40) | Totalc (N=157) |
|---|---|---|---|---|---|---|
| VAX1 | rs7078160 | 0.10 | 0.39 | 0.08 | 0.81 | 0.10 |
| rs4752028 | 0.13 | 1.00 | 0.26 | 0.32 | 0.10 | |
| PAX7 | rs4920520 | 0.56 | 0.75 | 0.92 | 0.27 | 0.66 |
| rs766325 | 0.31 | 0.34 | 0.68 | 0.72 | 0.94 | |
| rs6659735 | 0.05 | 0.34 | 0.02 | 0.37 | 0.007 | |
| Family based association analysis for all Asian populations combined for all cleft sub-types using markers for PAX7 and VAX1. | ||||||
| Gene | SNP | CLP (Na=270) | CLO (N=103) | CL(P)b (N=440) | CPO (N=54) | Totalc (N=494) |
| VAX1 | rs7078160 | 6.00E-07 | 0.02 | 4.6E-07 | 0.008 | 2.3E-08 |
| rs4752028 | 0.0003 | 0.01 | 0.00002 | 0.78 | 0.00004 | |
| PAX7 | rs4920520 | 0.91 | 0.47 | 0.70 | 0.78 | 0.75 |
| rs766325 | 0.91 | 0.37 | 0.42 | 0.70 | 0.48 | |
| Family based association analysis for all four populations combined for all cleft sub-types using markers for PAX7 and VAX1. | ||||||
| Gene | Location | CLP (Na=335) | CLO (N=149) | CL(P)b (N=554) | CPO (N=94) | Totalc (N=651) |
| VAX1 | rs7078160 | 1.5E-07 | 0.01 | 1.1E-07 | 0.02 | 7.4E-09 |
| rs4752028 | 0.0001 | 0.02 | 0.00001 | 0.34 | 9.8E-06 | |
| PAX7 | rs4920520 | 0.87 | 0.45 | 0.70 | 0.54 | 0.61 |
| rs766325 | 0.60 | 0.84 | 0.61 | 0.70 | 0.58 | |
CLO is cleft lip only, CPO is cleft palate only, CLP is cleft lip and palate and CL(P) is cleft lip with or without cleft palate.
a
Number of informative families
b
CL(P) includes families with both CL and CLP in their cleft history
c
Total includes cleft families where cleft type is unknown.