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. 2012 Dec 20;8(12):e1003070. doi: 10.1371/journal.pgen.1003070

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.