Table 2. Single nucleotide polymorphisms and insertion/deletion polymorphisms in ΔNp63 promoter found in BEEC patients and normal controls.
Ch. 3 position | NCBI rs or ss# number | Promoter position | Genotype | Numbers | Frequency (%) | ||
BEEC | Controls | BEEC | Controls | ||||
190987627 | ss#541026548* | −2657 | A/A | 59 | 147 | 86.8 | 68.7 |
Novel SNP | A/T | 8 | 61 | 11.8 | 28.5 | ||
T/T | 1 | 6 | 1.5 | 2.8 | |||
190987634 | rs2138247 | −2651 | C/C | 53 | 137 | 65.4 | 66.5 |
C/T | 28 | 65 | 34.6 | 31.6 | |||
T/T | 0 | 4 | 0.0 | 1.9 | |||
190987853 | ss#541027120 | −2431 | G/G | 46 | 77 | 64.8 | 65.3 |
Novel SNP | G/A | 20 | 37 | 28.2 | 31.4 | ||
A/A | 5 | 6 | 7.0 | 3.4 | |||
190987991 | rs6148242 | −2293 to −2282 | TCCAGAATCTTT/TCCAGAATCTTT | 70 | 108 | 56.0 | 71.5 |
12 bp del. | TCCAGAATCTTT/- | 48 | 42 | 38.4 | 27.8 | ||
-/- | 7 | 1 | 5.6 | 0.7 | |||
190988024 | rs1554130 | −2260 | C/C | 23 | 25 | 74.2 | 78.1 |
C/T | 7 | 7 | 22.6 | 21.9 | |||
T/T | 1 | 0 | 3.2 | 0.0 | |||
190988340 | rs55803942 | −1944 | C/C | 33 | 81 | 64.7 | 47.6 |
C/T | 16 | 75 | 31.4 | 44.1 | |||
T/T | 2 | 14 | 3.9 | 8.2 | |||
190988997 | rs5855273 | −1287 | -/- | 51 | 78 | 47.2 | 57.8 |
1 bp ins. | T/- | 34 | 53 | 31.5 | 39.3 | ||
T/T | 23 | 4 | 21.3 | 3.0 | |||
190989073 | rs1464118 | −1209 | T/T | 29 | 77 | 54.7 | 44.3 |
C/T | 18 | 70 | 34.0 | 40.2 | |||
C/C | 6 | 27 | 11.3 | 15.5 | |||
190989223 | rs1464117** | −1059 | C/C | 29 | 67 | 58 | 41.4 |
A/C | 13 | 65 | 26 | 40.1 | |||
A/A | 8 | 30 | 16 | 18.5 | |||
190990212 | rs34201045 | −71 | -/- | 83 | 95 | 84.7 | 88.8 |
2 bp ins. | -/AG | 15 | 11 | 15.3 | 10.3 | ||
AG/AG | 0 | 1 | 0.0 | 0.9 | |||
190990212 | ss#541028600 | −71 | -/- | 36 | 49 | 36.7 | 43.8 |
Novel 4 bp ins. | AGAG/- | 42 | 53 | 42.9 | 47.3 | ||
AGAG/AGAG | 20 | 10 | 20.4 | 8.9 |
Indel polymorphism/SNP rs numbers from reference sequences of p63 GenBank (Locus: NC_000003). Sumitter SNP (ss) accession numbers from NCBI. Data were sourced from 108 Caucasian patients, 126 Caucasian controls, 55 Non-Caucasian patients and 159 Non-Caucasian controls.
Heterozygous Novel SNP ss#541026548 (Ch. 3 position 190987627) was associated with a decreased risk of BEEC (p = 0.0071, OR = 2.357, CI 95% = 1.256–4.426).
Heterozygous SNP rs1464117 (Ch. 3 position 190989223) was associated with a decreased risk of BEEC (p = 0.0379, OR = 2.164, CI 95% = 1.035–4.527). Data were analyzed with contingency tables, χ-square, odds ratio and 95% confidence intervals.