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. 2017 Jul 20;9:231. doi: 10.3389/fnagi.2017.00231

Table 2.

Known and candidate SNP markers of sporadic AD near TBP-binding sites of promoters of the human genes associated with the hereditary immune system-related 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
CETP (118470) DEL-51(18 bp) Plengpanich et al., 2011 cgtgggggct 18bp
gggctccagg 4
7
7 10−6 A Hyperalphalipoproteinemia that prevents atherosclerosis and (hypothetically) higher risk of AD (rs1800775 of CETP [down] increases risk of AD) Plengpanich et al., 2011 (this work), Rodriguez et al., 2006
rs17231520 ggggctgggc g
a
gacatacata 4
2
10 10−6 A (hypothetically) lower risk of AD
rs569033466 atacatatac g
a
ggctccaggc 4
3
4 10−3 B
rs757176551 catatacggg c
g
tccaggctga 4
2
10 10−6 A
MMP12 (601046) rs2276109 gatatcaact a
g
tgagtcactc 11
14
3 10−2 C Lower risk of psoriasis, systemic sclerosis, and asthma Ponomarenko et al., 2015, (this work), Walker et al., 2006; Ito et al., 2007
rs572527200 gatgatatca a
g
ctatgagtca 11
14
3 10−2 C (hypothetically), lower risk of AD (MMP12 excess provokes inflammatory response whose result is neuronal cell loss)
MBL2 (154545) rs72661131 tctatttcta t
c
atagcctgca 2
4
12 10−6 A Variable immunodeficiency, preeclampsia, stroke Ponomarenko et al., 2015, (this work), Sjolander et al., 2013
rs562962093 atctatttct a
g
tatagcctgc 2
5
15 10−6 A (hypothetically) higher risk of AD
rs567653539 tttctatata g
a
cctgcaccca 2
1
12 10−6 A (hypothetically) lower risk of AD
SOD1 (147450) rs7277748 ggtctggcct a
g
taaagtagtc 2
7
17 10−6 A Amyotrophic lateral sclerosis, (hypothetically), higher risks of Aβ oligomerization and memory loss in AD Niemann et al., 2007, (this work), Murakami et al., 2011