Table 2

Frequency of alleles at 26 single nucleotide polymorphisms in the promoter and coding region of pituitary growth hormone and the nucleotide present at the homologous site in other members of the human GH locus


Frequency
 GH1 paralogs





Position*
 Alleles
 This Study
 Horan et al.
 CS-5
 CS-1
 GH2
 CS-2
 Categorization
 Function**
-580
 A
 0.985
A
 A
 A
 A
 Constant

G
 0.015






-476
 A
 0.012
 0.013
 A
 G
 A
 G
 Variant

G
 0.988
 0.987





-360
 A
 0.972
G
 G
 G
 G
 Variant

G
 0.028






-352
 G
 0.012
T
 G
 G
 G
 Variant

T
 0.988






-308
 G
 0.732
 0.753
 T
 C
 T
 C
 Variant

T
 0.268
 0.247





-301
 G
 0.732
 0.753
 T
 T
 T
 T
 Variant

T
 0.268
 0.247





-278
 G
 0.628
 0.601
 T
 A
 T
 A
 Variant
 NF1

T
 0.372
 0.399





-168
 C
 0.024
 0.019
 T
 C
 T
 C
 Variant

T
 0.976
 0.981





-75
 A
 0.900
 0.886
 G
 A
 G
 A
 Variant
 PIT-1

G
 0.100
 0.114





-57
 G
 0.687
 0.633
 G
 T
 A
 T
 Variant
 Vitamin D Receptor

T
 0.313
 0.367





-31
 G
 0.882
 0.867
 G
 G
 -
 G
 Variant
 Vitamin D Receptor

-
 0.118
 0.133





-6
 A
 0.565
 0.588
 A
 G
 A
 G
 Variant
 Transcription Start

G
 0.435
 0.412





-1
 A
 0.847
 0.932
 C
 T
 A
 T
 Variant
 Transcription Start

C
 0.044
 0.003






T
 0.109
 0.065





3
 C
 0.044
 0.003
 C
 G
 G
 G
 Variant
 Transcription Start

G
 0.956
 0.997





16
 A
 0.976
 0.981
 G
 A
 A
 A
 Variant
 5' UTR

G
 0.024
 0.019





25
 A
 0.980
 0.981
 C
 A
 A
 A
 Variant
 5' UTR

C
 0.020
 0.019





59
 G
 0.072
 0.049
 G
 G
 G
 G
 Variant
 5' UTR

T
 0.928
 0.951





69
 A
 0.968
G
 C
 G
 G
 Variant
 Thr/Ala

G
 0.032






124
 A
 0.988
G
 A
 G
 A
 Variant
 Intron

G
 0.012






128
 A
 0.988
C
 C
 T
 C
 Variant
 Intron

T
 0.012






140
 A
 0.004
G
 G
 G
 G
 Constant
 Intron

G
 0.996






144
 A
 0.012
G
 G
 G
 G
 Constant
 Intron

G
 0.988






281
 C
 0.024
T
 C
 C
 C
 Variant
 Intron

T
 0.976






596
 C
 0.986
T
 T
 T
 T
 Variant
 Intron

T
 0.014






1070
 A
 0.004
G
 G
 G
 G
 Constant
 Synonymous

G
 0.996






1169
 A
 0.331
T
 T
 T
 T
 Constant
 Intron

T
 0.669






* Relative to the start of transcription

** Polymorphisms in known transcription factor binding sites are shown. Site +69 is part of the signal peptide.

Adkins et al. BMC Pregnancy and Childbirth 2005 5:2   doi:10.1186/1471-2393-5-2