Table 2.
PVR and PVRL2 variants observed in USA CEU nsCLP patients and controls.
| Variants* | Allele frequency
|
Genotype frequency***
|
||||||||||
| Cases | Controls | p-value** | Cases
|
Controls
|
p-value*** | |||||||
| 11 | 12 | 22 | 11 | 12 | 22 | |||||||
| PVR | ||||||||||||
| rs11540085 (-1C > T) |
1/146 (0.007) | 1/210 (0.005) | 0.653 | 72 | 1 | 0 | 102 | 3 | 0 | 0.645 | ||
| rs1058402 (A67T) |
8/202 (0.039) | 3/210 (0.014) | 0.098 | 94 | 6 | 1 | 102 | 3 | 0 | 0.245 | ||
| rs203710 (I340M) |
4/146 (0.027) | 3/206 (0.015) | 0.317 | 69 | 4 | 0 | 100 | 3 | 0 | 0.451 | ||
| 19:49856876G > A (E404E) |
0/146 (0) |
1/178 (0.006) | 0.549 | 73 | 0 | 0 | 88 | 1 | 0 | 1.000 | ||
| PVRL2 | ||||||||||||
| 19:50077328G > A (A355T) |
1/144 (0.007) | 0/144 (0) |
0.500 | 71 | 1 | 0 | 72 | 0 | 0 | 1.000 | ||
| rs283814 (P409P) |
3/144 (0.068) | 1/144 (0.007) | 0.311 | 69 | 3 | 0 | 71 | 1 | 0 | 0.620 | ||
| 19:50081289T > C (F440F) |
2/144 (0.027) | 0/202 (0) |
0.173 | 70 | 2 | 0 | 101 | 0 | 0 | 0.172 | ||
| 19:50073660_50073661insAGG (R461-462ins) | 0/146 (0) |
2/206 (0.001) | 0.342 | 73 | 0 | 0 | 101 | 2 | 0 | 0.512 | ||
| rs41290128 (D496N) |
2/144 (0.027) | 2/202 (0.001) | 0.553 | 70 | 2 | 0 | 99 | 2 | 0 | 1.000 | ||
*Nucleotide positions are referent to NCBI Build 36 (November, 2005), release 38 (April, 2006).
**2X2 Fisher's exact test, 1-tailed assuming that the minor allele tags a potential risk variant.
***For each SNP, the major allele was designated 1 and the minor allele was designated 2; 2X3 Freeman-Halston extension of Fisher's exact test, 2-tailed.
p-values are given without Bonferroni correction.