Table 1.
Known and candidate SNP markers of tumors in reproductive organs
| Gene | dbSNP [6] rel. 147 or see [Ref] | 5′ flank |
wt
mut |
3′ flank | KD, nM | Known diseases (SNP markers) or hypothetical disease (candidate SNP markers) | [Ref] or [this work] | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
wt
mut |
Δ | Z | α | ρ | |||||||
| ESR2 | rs35036378 | cctctcggtc |
t
g |
ttaaaaggaa |
6
8 |
↓ | 5 | 10-3 | B | ESR2-deficient pT1 breast tumor needing tamoxifen prophylaxis against cancer | [61] |
| rs766797386 | ttaaaaggaa |
g
t |
aaggggctta |
6
7 |
↓ | 3 | 10-2 | C | (hypothetically) the same disease | [this work] | |
| HSD17B1 | rs201739205 | aggtgatatc |
a
c |
agcccagagc |
13
18 |
↓ | 5 | 10-6 | A | higher risk of breast cancer | [64] |
| rs201739205 | agcaggtgat |
a
t |
tcaagcccag |
13
35 |
↓ | 18 | 10-6 | A | (hypothetically) the same disease | [this work] | |
| rs748743528 | gcaggtgata |
t
c |
caagcccaga |
13
28 |
↓ | 13 | 10-6 | A | |||
| rs755636251 | ggcgaagcag |
g
t |
tgatatcaag |
13
11 |
↑ | 2 | 0.05 | D | (hypothetically) higher risk of breast cancer | [68] | |
| PGR | rs10895068 | gggagataaa |
g
a |
gagccgcgtg |
10
6 |
↑ | 8 | 10-6 | A | endometrial cancer caused by the spurious TATA box and its TSS disbalancing both α and β isoforms of progesterone receptor | [65] |
| rs544843047 | agtcgggaga |
t
c |
aaaggagccg |
10
22 |
↓ | 14 | 10-6 | A | (hypothetically) health as the norm without the above-mentioned spurious TATA box | [this work] | |
| GSTM3 | rs1332018 | ccccttatgt |
c
a |
gggtataaag |
4
3 |
= | 2 | 1 | E | maternal “c” (Wb: TF-binding site damaged, not TATA box), elevates risk of a brain tumor in her child, renal cancer, and Alzheimer’s disease | [66, 67] |
| rs200209906 | gtataaagcc |
c
t,a |
ctcccgctca |
3.6
4.3 |
↓ | 2 | 1 | E | (hypothetically) the same disease and low risks of breast cancer in those who never drink alcohol and lesser Hg-resistance during reproduction | [this work], [69] | |
| rs750789679 | cgggtataaa |
g
c |
cccctcccgc |
3.6
4.5 |
↓ | 3 | 10-2 | C | |||
| rs748231432 | cccttatgtc |
g
c,t |
ggtataaagc |
3.6
3.0 |
↑ | 3 | 0.05 | D | (hypothetically) lower risk of a brain tumor in a child whose mother has “c”-allele of rs1332018 | [this work], [66] | |
| rs763859166 | gggtataaag |
c
t |
ccctcccgct |
3.6
2.9 |
↑ | 3 | 10-2 | C | |||
Hereinafter, ancestral (wt) and minor (mut) alleles; KD, dissociation constant of TBP–DNA interaction; Δ, a change: overexpression (↑), deficit (↓), norm (=); α = 1 – p, significance {where p value is shown in Fig. 1; α = 1 denotes insignificance}; ρ, heuristic rank of candidate SNP markers varying in alphabetical order from the “best” (A) to the “worst” (E); the CETP gene: 18bp, the 18-bp deletion 5’-gggcggacatacatatac-3’; the F3 gene: 30bp, 17bp, and 18bp as the insertions 5’-agaccttcataagaaataatcctgatccaa-3’, 5’-tgctgcgtactggcaaa-3’, and 5’-acggcgtagagactggga-3’ of 30 bp, 17 bp, and 18 bp in length, respectively; EMSA, electrophoretic mobility shift assay; Hg, mercury; LUC, luciferase reporter assay; TF, transcription factor; Wb: western blot.