Table 4.
Known and candidate SNP markers of sporadic AD near TBP-binding sites of the promoter of human genes associated with hereditary cardiovascular 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 | |||||||
| THBD (188040) | rs13306848 | agggagggcc |
g a |
ggcacttata |
2 2 |
= | 1 | E | Thrombosis (LUC: TF-binding site damaged, not TBP-binding site) | Le Flem et al., 1999, (this work), Borroni et al., 2002 | |
| rs568801899 | caatccgagt |
g a |
tgcggcatca |
45 70 |
↓ | 6 | 10−6 | A | (hypothetically) low risk of AD whose biochemical marker is thrombomodulin excess | ||
| F3 (134390) | rs563763767 | ccctttatag |
c t |
gcgcggggca |
3 2 |
↑ | 6 | 10−6 | A | Myocardial infarction; thrombosis; (hypothetically) high risk of AD (F3 is in Aβ-plaques) | Arnaud et al., 2000, (this work), McComb et al., 1991 |
| F7 (613878) | −33a→c Kavlie et al., 2003 | ccttggaggc |
a c |
gagaactttg |
53 62 |
↓ | 3 | 10−2 | C | Moderate bleeding | Kavlie et al., 2003, (this work), |
| rs749691733 | agaactttgc |
c t |
cgtcagtccc |
53 66 |
↓ | 4 | 10−3 | B | Higher risk of AD (another SNP rs6046 reduces F7 activity that was associated with AD) | Barber et al., 2015 | |
| rs367732974 | aactttgccc |
g a |
tcagtcccat |
53 47 |
↑ | 2 | 0.05 | D | lower risk of AD (F7 excess is negatively associated with AD) | ||
| rs549591993 | gcccgtcagt |
c a |
ccatggggaa |
53 25 |
↑ | 13 | 10−6 | A | |||
| rs777947114 | agagaacttt |
g a |
cccgtcagtc |
53 19 |
↑ | 19 | 10−6 | A | |||
| rs770113559 | gtcacccttg |
g a |
aggcagagaa |
53 41 |
↑ | 5 | 10−6 | A | |||
| rs754814507 | cctcccccat |
c t |
cctctgtcac |
53 45 |
↑ | 3 | 10−3 | B | |||
| GJA5 (121013) | rs10465885 | caactaagat |
g a |
tattaaacac |
3 3 |
= | 1 | E | Arrhythmia, cardiovascular events (LUC: TF-binding site damaged, not TBP-binding site; mut 200% of wt), | Wirka et al., 2011, (this work), Mo et al., 2014 | |
| (hypothetically) lower risk of AD development after stress | |||||||||||
| rs35594137 | gaggagggaa |
g a |
gcgacagata |
6 6 |
= | 0 | E | Arrhythmia, cardiovascular events (LUC: TF-binding site damaged, not TBP-binding site; mut 50% of wt) | Firouzi et al., 2004, (this work), Mo et al., 2014 | ||
| rs587745372 | ggcgacagat |
a t |
cgattaaaaa |
6 7 |
↓ | 3 | 10−3 | B | (hypothetically) GJA5 deficiency increases risk of AD development after stress | (this work), Mo et al., 2014 | |