Table 5.
Known and candidate SNP markers of sporadic AD near TBP-binding sites of the promoter of the human genes associated with the hereditary hormone-related diseases.
| Gene | dbSNP rel. 147 or see (Ref) | 5′ flank |
wt mut |
3′ flank | K D , nM | Known diseases (known SNP markers) or hypothetical disease (candidate SNP markers) | (Ref) or [this work] | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
wt mut |
Δ | Z | α | ρ | |||||||
| GH1 (139250) | rs11568827 | aggggccagg |
g − |
tataaaaagg |
1.5 1.4 |
= | 1 | E | Short stature (EMSA: unknown TF-binding site lost, not TBP-binding site) | Horan et al., 2003, (this work), Malek et al., 2009; Turnaev et al., 2016 | |
| rs796237787 | gaaggggcca |
g − |
ggtataaaaa | ||||||||
| rs768454929 | agggtataaa |
a c |
agggcccaca |
1.5 2.6 |
↓ | 7 | 10−6 | A | (hypothetically) higher risks of AD and apparent effectiveness of somatotropin as a drug for AD but weaker spatial cognition in the elderly with AD | ||
| rs761695685 | gccagggtat |
a g |
aaaagggccc |
1.5 5.8 |
↓ | 19 | 10−6 | A | |||
| rs774326004 | ccagggtata |
a t |
aaagggccca |
1.5 0.9 |
↑ | 7 | 10−6 | A | (hypothetically) lower risk of AD and apparent effectiveness of somatotropin as a drug for AD but stronger spatial cognition in the elderly with AD | ||
| rs777003420 | aaggggccag |
g t |
gtataaaaag |
1.5 1.3 |
↑ | 3 | 0.05 | D | |||
| INS (176730) | rs5505 | agatcactgt |
c t |
cttctgccat |
53 44 |
↑ | 4 | 10−3 | B | Type 1 diabetes (T1D) after neonatal diabetes mellitus (DM) | Landrum et al., 2014, (this work), Picone et al., 2015 |
| rs563207167 | tcagccctgc |
c t |
tgtctcccag |
53 44 |
↑ | 4 | 10−3 | B | (hypothetically) low risk of AD (insulin excess reduces both Aβ abundance and cell death) | ||
| rs11557611 | gatcactgtc |
c t |
ttctgccatg |
53 60 |
↓ | 2 | 0.05 | D | (hypothetically) high risk of AD | ||
| GCG (138030) | rs183433761 | gctggagagt |
a g |
tataaaagca |
0.9 1.6 |
↓ | 17 | 10−6 | A | (hypothetically) both glucagon deficiency and hyperleptinemia in urban children can elevate risk of AD in the elderly | Chadaeva et al., 2016, (this work), Tezapsidis et al., 2009; Calderon-Garciduenas et al., 2015 |
| rs757035851 | tatataaaag |
cag − |
tgcgccttgg |
0.9 1.1 |
↓ | 3 | 10−3 | B | |||
| LEP (164160) | rs200487063 | tgatcgggcc |
g a |
ctataagagg |
4 2 |
↑ | 6 | 10−6 | A | ||
| rs34104384 | ccgctataag |
a t |
ggggcgggca |
4 3 |
↑ | 4 | 10−2 | C | |||
| rs201381696 | tcgggccgct |
a g |
taagaggggc |
4 12 |
↓ | 17 | 10−6 | A | (hypothetically) higher risk of AD where Aβ aggregates can cause hypothalamic leptin signaling dysfunction leading to early body weight deficits; AD treatment involves nutritional assessments and dietary measures; there is leptin replacement therapy for AD in case of leptin deficiency and weight loss | ||