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 |