Table 2.
PVRL1 Variants in North American Caucasian Nonsyndromic Cleft Lip Patients with or without Cleft Palate, and Controls
| Variant | Exon | PVRL1 isoform affected | Allele frequency among nsCL/P patients (n = 104) | Allele frequency among controls (n = 105) | p-Valuea |
|---|---|---|---|---|---|
| V89M (GTG > ATG) | 2 | α,β,γ | 2/208 (0.010) | 0 | ns |
| R199Q (CGG > CAG) | 3 | α,β,γ | 0 | 2/210 (0.010) | ns |
| 442insE (insGAG) | 6A | α only | 22/208 (0.106) | 16/210 (0.080) | ns |
| 442insEE (insGAGGAG) | 6A | α only | 1/208 (0.005) | 2/210 (0.010) | ns |
| G507E (GGG > GAG) | 6A | α only | 0 | 1/210 (0.005) | ns |
| G361V (GGT > GTT) | 6 | β only | 20/208 (0.096) | 13/210 (0.062) | ns |
| P393P (CCG > CCA) | 7 | β only | 7/208 (0.034) | 2/210 (0.010) | ns |
| S447L (TCG > CCT) | 8 | β only | 7/208 (0.034) | 1/210 (0.005) | 0.033 |
| Total affecting α (PRR) isoform | 25 | 21 | ns | ||
| Total affecting β (HIgR) isoform | 36 | 18 | 0.006 | ||
| Total affecting γ isoform | 2 | 2 | ns |
a
Fisher's exact test, one-tailed.
ns, nonsignificant; nsCL/P, nonsyndromic cleft lip with or without cleft palate.