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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

From: Association between fetal growth restriction and polymorphisms at sites -1 and +3 of pituitary growth hormone: a case-control study

  

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

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