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

Table 3.

Known and candidate reproductivity-related SNP markers in genes of hormones

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
LEP rs201381696 tcgggccgct a
g
taagaggggc 4
12
17 10-6 A hypoleptinemia elevates risk of obesity [54, 106]
rs200487063 tgatcgggcc g
a
ctataagagg 4
2
6 10-6 A (hypothetically) hyperleptinemia elevates risk of hypertension in obesity [this work], [107, 110]
rs34104384 ccgctataag a
t
ggggcgggca 4
3
4 10-2 C
GCG rs183433761 gctggagagt a
g
tataaaagca 0.9
1.6
17 10-6 A resistance to obesity during a high-fat diet [54]
(hypothetically) hypoglucogonemia decreases pregnancy probability, serum insulin in pregnancy, and during late gestational period [this work], [111, 112]
rs757035851 tatataaaag cag
-
tgcgccttgg 0.9
1.1
3 10-3 B
GH1 rs11568827 aggggccagg g
-
tataaaaagg 1.5
1.4
= 1 1 E short stature (EMSA: unknown TF-binding site lost, not TATA box) [107]
(hypothetically) higher risk of GH1 deficiency as clinical syndrome whose symptoms are increased central adiposity, atherogenesis, as well as cerebrovascular and cardiac morbidity (and mortality), and, also, decreased lean body mass, bone mineral density, quality of life [this work], [113]
rs796237787 gaaggggcca g
-
ggtataaaaa
rs768454929 agggtataaa a
c
agggcccaca 1.5
2.6
7 10-6 A
rs761695685 gccagggtat a
g
aaaagggccc 1.5
5.8
19 10-6 A
rs774326004 ccagggtata a
t
aaagggccca 1.5
0.9
7 10-6 A (hypothetically) higher risks of acromegaly [this work], [114]
rs777003420 aaggggccag g
t
gtataaaaag 1.5
1.3
3 0.05 D
INS rs5505 agatcactgt c
t
cttctgccat 53
44
4 10-3 B type 1 diabetes after neonatal diabetes mellitus [108]
(hypothetically) hyperinsulinemia elevates the placental leptin which causes neonatal macrosomia [this work], [115]
rs563207167 tcagccctgc c
t
tgtctcccag 53
44
4 10-3 B
rs11557611 gatcactgtc c
t
ttctgccatg 53
60
2 0.05 D (hypothetically) hypoinsulinemia slows down fetal growth [this work], [116]

See “Note” under Table 1