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Table 4 Known and candidate reproductivity-related SNP markers in genes of other metabolic proteins

From: Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters

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

[288,289,290], [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]

  1. See “Note” under Table 1