Table 3.
Known and candidate SNP markers of sporadic AD near TBP-binding sites in the promoter of the human genes associated with hereditary blood diseases.
| Gene (OMIM ID) | 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 | |||||||
| HBB (141900) | rs397509430 | gggctgggca |
t − |
atacaacagt |
5 29 |
↓ | 34 | 10−6 | A | Malaria resistance, Cooley's anemia (thalassemia), and (hypothetically) in homozygotes, high risk of AD (both under- and over-expression of either HBB or HBD genes are associated with an increased risk of AD and more rapid cognitive decline (i.e., abnormal Hb abundance correlates with both AD and cognitive decline), whereas Aβ and Hb aggregate with each other near traumatic vascular injury in the brain); heterozygote protects from AD | Martiney et al., 1996, (this work), Fallahzadeh et al., 2009; Ferrer et al., 2011; Shah et al., 2011; Chuang et al., 2012; Shang et al., 2015 |
| rs33980857 | gggctgggca |
t a,g,c |
atacaacagt |
5 21 |
↓ | 27 | 10−6 | A | |||
| rs34598529 | ggctgggcat |
a g |
aaagtcaggg |
5 18 |
↓ | 24 | 10−6 | A | |||
| rs33931746 | gctgggcata |
a g,c |
aagtcagggc |
5 11 |
↓ | 14 | 10−6 | A | |||
| rs33981098 | agggctgggc |
a g,c |
taaaagtcag |
5 9 |
↓ | 10 | 10−6 | A | |||
| rs34500389 | cagggctggg |
c a,t,g |
ataaaagtca |
5 6 |
↓ | 3 | 10−2 | C | |||
| HBD (142000) | rs35518301 | caggaccagc |
a g |
taaaaggcag |
4 8 |
↓ | 11 | 10−6 | A | ||
| HBB (141900) | rs63750953 | ctgggcataa |
aa − |
gtcagggcag |
5 8 |
↓ | 9 | 10−6 | A | ||
| rs281864525 | tgggcataaa |
a c |
gtcagggcag |
5 7 |
↓ | 7 | 10−6 | A | |||
| HBD (142000) | rs34166473 | aggaccagca |
t c |
aaaaggcagg |
4 8 |
↓ | 18 | 10−6 | A | ||
| TPI1 (190450) | rs1800202 | gcgctctata |
t g |
aagtgggcag |
1 4 |
↓ | 17 | 10−6 | A | Hemolytic anemia, neuromuscular disease | Ponomarenko V. et al., 2016 (this work), Tajes et al., 2014 |
| rs781835924 | cgcggcgctc |
t c |
atataagtgg |
1 2 |
↓ | 10 | 10−6 | A | (hypothtically) high risk of AD (TPI1 deficiency correlates with AD); lower neuron viability and greater learning and memory deterioration in AD | ||
| APOA1 (107680) | −35a→c Matsunaga et al., 1999 | tgcagacata |
a c |
ataggccctg |
3 4 |
↓ | 5 | 10−6 | A | Fatty liver; (hypothetically) lower risk of AD (another SNP rs670 increasing APOA1 expression elevates risks of AD and cognitive decline) except in the case of fatty liver | Matsunaga et al., 1999, (this work), Vollbach et al., 2005 |