Table 3.
Association of Observed Polymorphism with Orofacial Clefting with or without Tooth Agenesis
| Nucleotide Positiona |
Nucleotide Variant |
Amino Acid Variant |
Case-Control Comparisons | Controlsd, N = 165 |
|||||
|---|---|---|---|---|---|---|---|---|---|
| Clefting (CL/P), n = 33* | Clefting and Tooth Agenesisb, n = 19 | Clefting and Tooth Agenesisc, n = 13 | |||||||
| Number of Variantse (%) | p value | Number of Variantse (%) | p value | Number of Variantse (%) | p value | ||||
| 5′UTR | |||||||||
| 434 | −36G>A | - | 4/66 ( 6.1%) | 0.22 | 0/38 ( 0%) | 0.11 | 0/38 ( 0%) | 0.11 | 20/330 ( 6.1%) |
| EXON 1 | |||||||||
| 570 | 101C>G | Ala34Gly | 12/66 (18.2%) | 0.14 | 16/38 (42.1%) | 0.0008 | 9/26 (34.6%) | 0.028 | 60/330 (18.2%) |
| 799 | 330C>T | Gly110Gly | 3/66 ( 4.5%) | 0.11 | 0/38 ( 0%) | 0.56 | 0/38 ( 0%) | 0.56 | 5/318 ( 1.6%) |
| 3′UTR | |||||||||
| 3695 | *6C>T | - | 30/66 (45.4%) | 0.001 | 4/38 (10.5%) | 0.014 | 2/26 ( 7.7%) | 0.017 | 66/248 (26.6%) |
*
n = number of individuals included in the analysis.
a
Positions of variants are referred to by the nucleotide position within the GenBank entry, AF426432.
b
Analysis included 19 individuals with clefting and tooth agenesis.
c
Analysis excluded six individuals with clefting, tooth agenesis, and additional major anomalies or facial dysmorphology.
d
Control data from Lidral et al. (1998).
e
Number of variants is number of chromosomes for rare allele/total number of alleles.