Table 4.
P values for associations between Hirschsprung’s disease and SNPs in candidate genes for enteric nervous system development, including (+) and excluding (-) cases with RET coding and splice-site variants1
| Gene | SNP2 | All subjects | Non-Hispanic white | African- American | Hispanic | Asian | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| + | − | + | − | + | − | + | − | + | − | ||
| ASCL1 | rs9782:A>G | 0.45 | 0.73 | 0.80 | 0.68 | 0.11 | 0.33 | 0.47 | 0.28 | 0.93 | 0.99 |
| rs1391682:G>A | 0.70 | 0.71 | 0.67 | 0.58 | 0.98 | 0.98 | 0.75 | 0.66 | 0.88 | 0.75 | |
| rs2291854:C>T | 0.73 | 0.68 | 0.39 | 0.18 | 0.84 | 0.77 | 0.28 | 0.20 | 0.99 | 0.98 | |
| rs17450122:A>G | 0.97 | 0.88 | 0.86 | 0.60 | 0.029 | 0.0085 | 0.79 | 0.91 | 0.99 | 0.93 | |
| rs1874875:G>C | 0.10 | 0.12 | 0.015 | 0.024 | 0.88 | 0.98 | 0.91 | 0.91 | 0.26 | 0.36 | |
| HOXB5 | rs4793943:C>G | 0.86 | 0.93 | 0.80 | 0.67 | 0.19 | 0.25 | 0.052 | 0.034 | 0.95 | 0.85 |
| rs4793589:G>C | 0.89 | 0.96 | 0.75 | 0.62 | 0.17 | 0.22 | 0.052 | 0.033 | 0.95 | 0.85 | |
| rs872760:T>C | 0.77 | 0.86 | 0.78 | 0.65 | 0.17 | 0.22 | 0.052 | 0.034 | 0.95 | 0.85 | |
| rs9299:A>G | 0.94 | 0.78 | 0.45 | 0.50 | 0.58 | 0.37 | 0.55 | 0.43 | 0.42 | 0.46 | |
| rs7406798:C>T | 0.91 | 0.80 | 0.54 | 0.63 | 0.98 | 0.71 | 0.96 | 0.83 | 0.99 | 0.99 | |
| rs1529334:T>C | 0.76 | 0.82 | 0.95 | 0.97 | 0.36 | 0.35 | 0.064 | 0.036 | 0.89 | 0.76 | |
| L1CAM | Male | ||||||||||
| rs4646266:C>A | 0.34 | 0.37 | 0.98 | 0.88 | 0.37 | 0.48 | 0.30 | 0.26 | 0.98 | 0.98 | |
| rs5987173:G>A | 0.46 | 0.65 | 0.99 | 0.99 | 0.43 | 0.64 | 0.93 | 0.97 | 0.99 | 0.99 | |
| rs4646265:T>C | 0.75 | 0.75 | 0.99 | 0.75 | 0.75 | 0.70 | 0.23 | 0.15 | 0.98 | 0.98 | |
| rs4646263:G>A | 0.35 | 0.30 | 0.60 | 0.32 | 0.33 | 0.45 | 0.27 | 0.41 | 0.43 | 0.53 | |
| Female | |||||||||||
| rs4646266:C>A | 0.60 | 0.90 | 0.52 | 0.59 | 0.57 | 0.82 | 0.96 | 0.70 | 0.99 | 0.99 | |
| rs5987173:G>A | 0.69 | 0.89 | 0.99 | 0.99 | 0.80 | 0.98 | 0.97 | 0.97 | 0.99 | 0.99 | |
| rs4646265:T>C | 0.18 | 0.0094 | 0.051 | 0.020 | 0.40 | 0.34 | 0.31 | 0.60 | 0.89 | 0.58 | |
| rs4646263:G>A | 0.37 | 0.15 | 0.35 | 0.26 | 0.47 | 0.46 | 0.50 | 0.57 | 0.16 | 0.70 | |
| PHOX2B | rs11723860:G>A | 0.48 | 0.67 | 0.15 | 0.11 | 0.96 | 0.91 | 0.42 | 0.38 | 0.92 | 0.99 |
| rs6826373:C>T | 0.85 | 0.80 | 0.77 | 0.80 | 0.75 | 0.86 | 0.057 | 0.058 | 0.84 | 0.99 | |
| rs2196822:A>C | 0.99 | 0.70 | 0.79 | 0.80 | 0.34 | 0.13 | 0.28 | 0.12 | 0.81 | 0.98 | |
| rs6811325:C>T | 0.67 | 0.35 | 0.89 | 0.94 | 0.76 | 0.23 | 0.13 | 0.049 | 0.79 | 0.97 | |
| rs4608840:C>T | 0.67 | 0.39 | 0.71 | 0.76 | 0.47 | 0.12 | 0.20 | 0.084 | 0.81 | 0.98 | |
| PROK1 | rs12405277:A>G | 0.73 | 0.87 | 0.98 | 0.79 | 0.38 | 0.22 | 0.68 | 0.73 | 0.16 | 0.087 |
| rs1857512:G>A | 0.21 | 0.61 | 0.34 | 0.55 | 0.55 | 0.76 | 0.46 | 0.40 | 0.91 | 0.75 | |
| rs4839391:G>A | 0.37 | 0.42 | 0.35 | 0.18 | 0.75 | 0.26 | 0.76 | 0.85 | 0.80 | 0.57 | |
| rs884735:A>T | 0.08 | 0.12 | 0.26 | 0.29 | 0.14 | 0.053 | 0.91 | 0.94 | 0.82 | 0.87 | |
| rs3795828:C>T | 0.38 | 0.59 | 0.75 | 0.86 | 0.73 | 0.61 | 0.44 | 0.52 | 0.99 | 0.99 | |
| rs17628304:A>C | 0.23 | 0.39 | 0.93 | 0.92 | 0.38 | 0.16 | 0.20 | 0.23 | 0.33 | 0.22 | |
| rs7534330:C>T | 0.78 | 0.74 | 0.56 | 0.50 | 0.86 | 0.77 | 0.31 | 0.36 | 0.99 | 0.99 | |
| rs7513898:G>A | 0.19 | 0.21 | 0.72 | 0.72 | 0.044 | 0.016 | 0.21 | 0.39 | 0.16 | 0.087 | |
| rs7514102:G>A | 0.18 | 0.49 | 0.84 | 0.84 | 0.078 | 0.058 | 0.14 | 0.22 | 0.20 | 0.14 | |
| rs1044837:C>T | 0.23 | 0.26 | 0.73 | 0.91 | 0.19 | 0.18 | 0.77 | 0.78 | 0.99 | 0.83 | |
| PROKR1 | rs4854479:G>C | 0.091 | 0.12 | 0.083 | 0.13 | 0.35 | 0.15 | 0.14 | 0.18 | 0.54 | 0.32 |
| rs7570797:A>G | 0.51 | 0.44 | 0.69 | 0.99 | 0.11 | 0.090 | 0.42 | 0.35 | 0.30 | 0.75 | |
| rs12713655:A>G | 0.26 | 0.25 | 0.43 | 0.63 | 0.62 | 0.41 | 0.54 | 0.63 | 0.62 | 0.44 | |
| rs4627609:T>C | 0.25 | 0.24 | 0.43 | 0.65 | 0.67 | 0.43 | 0.67 | 0.76 | 0.62 | 0.44 | |
| rs6731427:G>A | 0.28 | 0.36 | 0.53 | 0.66 | 0.68 | 0.70 | 0.34 | 0.34 | 0.23 | 0.20 | |
| rs4854436:G>A | 0.26 | 0.20 | 0.18 | 0.21 | 0.88 | 0.90 | 0.38 | 0.59 | 0.86 | 0.91 | |
| RET | rs10900296:G>A | 1.9×10−30 | 1.2×10−30 | 7.2×10−22 | 7.0×10−22 | 0.57 | 0.49 | 2.9×10−6 | 4.0×10−6 | 0.0015 | 0.0016 |
| rs10900297:C>A | 4.9×10−9 | 5.4×10−9 | 3.1×10−8 | 2.7×10−8 | 0.81 | 0.61 | 0.062 | 0.11 | 0.11 | 0.11 | |
| rs1864410:C>A | 4.4×10−29 | 6.8×10−29 | 7.6×10−21 | 9.8×10−21 | 0.67 | 0.79 | 2.1×10−6 | 3.7×10−6 | 0.0022 | 0.0025 | |
| rs2435357:C>T | 1.8×10−30 | 7.4×10−30 | 4.9×10−22 | 6.7×10−22 | 0.31 | 0.59 | 9.5×10−6 | 2.1×10−5 | 0.0016 | 0.0018 | |
| rs1800858:G>A | 7.1×10−30 | 1.7×10−29 | 3.7×10−21 | 3.7×10−21 | 0.32 | 0.69 | 5.8×10−6 | 1.2×10−5 | 0.00075 | 0.00086 | |
| rs1800861:T>G | 9.4×10−7 | 1.6×10−5 | 0.0014 | 0.010 | 0.98 | 0.78 | 0.0070 | 0.0033 | 0.039 | 0.067 | |
| rs2075912:C>T | 6.8×10−10 | 5.1×10−9 | 2.0×10−6 | 1.9×10−5 | 0.80 | 0.50 | 0.0095 | 0.0057 | 0.011 | 0.010 | |
Logistic regression was used to calculate P values from two degree-of-freedom tests comparing SNP genotypes between cases and controls; models were adjusted for maternal smoking and parity (analyses that include all subjects are also adjusted for race/ethnicity)
Major allele is listed first