Skip to main content
. 2018 Feb 9;19(Suppl 3):0. doi: 10.1186/s12864-018-4478-3

Table 4.

Known and candidate reproductivity-related SNP markers in genes of other metabolic proteins

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
NOS2 -51t→c [288] gtataaatac t
c
tcttggctgc 2
1
3 10-2 C resistance to malaria and epilepsy (hypothetically) higher risk of gestational diabetes mellitus [288290], [this work], [147]
STAR rs16887226 cagccttcag c
t
gggggacatt 10
10
= 0 1 E hypertensive diabetic patients, (EMSA: unknown TF-binding site lost rather than TATA box) [291]
rs544850971 tcagcggggg a
g
catttaagac 10
12
5 10-2 C (hypothetically) lower risk of the same disease and congenital adrenal hyperplasia [this work], [148]
APOA1 35a→c [292] tgcagacata a
c
ataggccctg 3
4
5 10-6 A fatty liver (hypothetically) high risk of polycystic ovary syndrome in young women [292], [this work], [149]
CETP DEL-51(18 bp) [293] cgtgggggct 18bp
-
gggctccagg 4
7
7 10-6 A hyperalphalipoproteinemia reducing risk of atherosclerosis [293]
rs17231520 ggggctgggc g
a
gacatacata 4
2
10 10-6 A (hypothetically) biomarker of late pregnancy when plasma triglyceride, high-density lipoprotein, and cholesterol concentrations are significantly increased [this work], [150]
rs569033466 atacatatac g
a
ggctccaggc 4
3
4 10-3 B
rs757176551 catatacggg c
g
tccaggctga 4
2
10 10-6 A
SOD1 rs7277748 ggtctggcct a
g
taaagtagtc 2
7
17 10-6 A amyotrophic lateral sclerosis, (hypothetically), asthenospermia, lower female fertility via progesterone deficiency [294], [this work], [151, 152]
TPI1 rs1800202 gcgctctata t
g
aagtgggcag 1
4
17 10-6 B hemolytic anemia, neuromuscular diseases [295, 296]
(hypothtically) higher risk of asthenospermia [this work], [153]
rs781835924 cgcggcgctc t
c
atataagtgg 1
2
10 10-6 B
GJA5 rs10465885 caactaagat g
a
tattaaacac 3
3
= 1 1 E arrhythmia, cardiovascular events (LUC: TF-binding site damaged, not TATA box) [297]
(hypothetically) the same disease and higher risk of heart morphogenesis disorders [this work], [154]
rs587745372 ggcgacagat a
t
cgattaaaaa 6
7
3 10-3 B
rs35594137 gaggagggaa g
a
gcgacagata 6
6
= 0 1 E
arrhythmia, cardiovascular events (LUC: TF-binding site damaged, not TATA box) [298]

See “Note” under Table 1