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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