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Table 2 NRG1 variants found in Indonesian HSCR patients

From: NRG1 variant effects in patients with Hirschsprung disease

Variants

Reference

Frequency

Odds ratio (95% CI)

p-value

Nucleotide

Amino Acid

Cases/Allele (54/108)

Control/Allele (92/184)

c.-97C > A

5’-UTR

rs7834206

Genotype

Genotype

  
   

CC: 26

CC: 59

1.79 (1.03–3.11)

0.037*

   

CA: 24

CA: 31

  
   

AA: 4

AA: 2

  
   

Allele

Allele

  
   

C: 76

C: 149

  
   

A: 32

A: 35

  

c.136G > A

p.G46R

rs3735774α

Genotype

Genotype

  
   

GG: 47

GG: 75

0.79 (0.33–1.89)

0.59

   

GA: 6

GA: 17

  
   

AA: 1

AA: 0

  
   

Allele

Allele

  
   

G: 100

G: 167

  
   

A: 8

A: 17

  

c.2298G > T

p.G613 V

rs75155858μ

Genotype

Genotype

  
   

GG: 26

GG: 39

1.02 (0.62–1.67)

0.94

   

GT: 18

GT: 42

  
   

TT: 10

TT: 11

  
   

Allele

Allele

  
   

G: 70

G: 120

  
   

T: 38

T: 64

  

c.397G > C

p.V133 L

rs35641374α

Genotype

Genotype

  
   

GG: 53

GG: 92

  
   

GC: 1

GC: 0

  
   

CC: 0

CC: 0

  
   

Allele

Allele

  
   

G: 107

G: 184

  
   

C: 1

C: 0

  
  1. *, a p-value of < 0.05 was considered significant; α, NP_039253; μ, NP_039251