Table 2.
Overall (N=337 families)
|
Early-onset (N=40 families)
|
Late-onset (N=297 families)
|
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---|---|---|---|---|---|---|---|---|
Gene and SNP | SNP type | Alleles (frequency) | APL p | PDT p | APL p | PDT p | APL p | PDT p |
NOS1: | ||||||||
rs3782221 | intronic | A(0.22)/G(0.78) | 0.89 | 0.40 | 0.60 | 1.00 | 0.83 | 0.33 |
rs1123425 | intronic | A(0.56)/G(0.44) | 0.71 | 0.87 | 0.83 | 0.89 | 0.82 | 0.81 |
rs693534 | intronic | A(0.39)/G(0.61) | 0.23 | 0.82 | 0.13 | 0.058 | 0.63 | 0.58 |
rs1552228 | intronic | A(0.88)/G(0.12) | 0.71 | 0.78 | 0.64 | 0.47 | 0.63 | 1.00 |
rs1552227 | intronic | C(0.72)/T(0.28) | 0.74 | 0.89 | 0.16 | 0.12 | 0.31 | 0.26 |
rs545654 | intronic | C(0.48)/T(0.52) | 0.48 | 1.00 | 0.089 | 0.14 | 0.98 | 0.47 |
rs3782218 | intronic | C(0.82)/T(0.18) | 0.93 | 0.82 | 0.11 | 0.12 | 0.61 | 0.54 |
rs1520811 | intronic | A(0.31)/G(0.69) | 0.63 | 0.95 | 0.32 | 0.19 | 0.40 | 0.69 |
rs12578547 | intronic | C(0.22)/T(0.78) | 0.79 | 1.00 | 0.15 | 0.43 | 0.90 | 0.74 |
rs1483757 | intronic | A(0.58)/G(0.42) | 0.74 | 0.90 | 0.17 | 0.10 | 0.35 | 0.60 |
rs547954 | intronic | A(0.18)/G(0.82) | 0.75 | 0.75 | 0.79 | 0.58 | 0.92 | 0.53 |
rs561712 | intronic | C(0.61)/T(0.39) | 0.93 | 0.91 | 0.33 | 0.26 | 0.62 | 0.69 |
rs478597 | intronic | C(0.61)/T(0.39) | 0.99 | 0.95 | 0.29 | 0.29 | 0.55 | 0.65 |
rs11068447 | intronic | A(0.10)/G(0.90) | 0.23 | 0.70 | 0.86 | 0.68 | 0.25 | 0.51 |
rs7295972 | intronic | A(0.51)/G(0.49) | 0.36 | 0.51 | 0.12 | 0.15 | 0.72 | 0.95 |
rs11611788 | intronic | A(0.89)/G(0.11) | 0.32 | 0.44 | 0.97 | 0.85 | 0.27 | 0.43 |
rs2293052 | intronic | A(0.37)/G(0.63) | 0.18 | 0.28 | 0.066 | 0.090 | 0.56 | 0.69 |
rs7139256 | intronic | C(0.21)/T(0.79) | 0.34 | 1.00 | 0.55 | 0.58 | 0.49 | 0.79 |
rs2293055 | intronic | A(0.08)/G(0.92) | 0.48 | 1.00 | 0.71 | 0.34 | 0.36 | 0.54 |
rs2293054 | synonymous coding | A(0.30)/G(0.70) | 0.17 | 0.68 | 0.66 | 0.63 | 0.24 | 0.82 |
rs12829185 | intronic | C(0.81)/T(0.19) | 0.076 | 0.24 | 0.046 | 0.059 | 0.35 | 0.67 |
rs1047735 | synonymous coding | A(0.29)/G(0.71) | 0.25 | 0.41 | 0.31 | 0.35 | 0.44 | 0.61 |
rs816354 | intronic | C(0.08)/T(0.92) | 0.73 | 0.70 | 0.30 | 0.18 | 0.49 | 0.83 |
rs10774910 | intronic | C(0.69)/T(0.31) | 0.11 | 0.085 | 0.75 | 0.49 | 0.13 | 0.11 |
rs4767523 | intronic | G(0.09)/T(0.91) | 0.95 | 1.00 | 0.40 | 0.74 | 0.88 | 0.90 |
rs3741475 | synonymous coding | A(0.20)/G(0.80) | 0.10 | 0.24 | 0.025 | 0.025 | 0.43 | 0.72 |
rs2682826 | 3′ untranslated | A(0.27)/G(0.73) | 0.26 | 0.17 | 0.036 | 0.035 | 0.67 | 0.61 |
NOS2A: | ||||||||
rs3730014 | synonymous coding | A(0.02)/G(0.98) | 0.40 | 0.64 | 0.90 | 0.56 | 0.24 | 0.44 |
rs3794766 | intronic | C(0.76)/T(0.24) | 0.45 | 0.43 | 0.82 | 0.41 | 0.46 | 0.68 |
rs2072324 | intronic | A(0.19)/C(0.81) | 0.17 | 0.047 | 0.15 | 0.39 | 0.42 | 0.073 |
rs8072199 | intronic | C(0.55)/T(0.45) | 0.39 | 0.42 | 0.44 | 0.65 | 0.27 | 0.29 |
rs16966563 | synonymous coding | C(0.02)/T(0.98) | 0.26 | 0.23 | 0.80 | 1.00 | 0.18 | 0.17 |
rs3794764 | intronic | A(0.20)/G(0.80) | 0.17 | 0.047 | 0.21 | 0.35 | 0.29 | 0.077 |
rs17722851 | intronic | A(0.10)/T(0.90) | 0.34 | 0.50 | 0.31 | 0.25 | 0.13 | 0.22 |
rs944725 | intronic | C(0.63)/T(0.37) | 0.094 | 0.12 | 0.090 | 0.37 | 0.26 | 0.18 |
rs4795067 | intronic | A(0.68)/G(0.32) | 0.43 | 0.33 | 0.25 | 0.49 | 0.16 | 0.17 |
rs1137933 | synonymous coding | A(0.22)/G(0.78) | 0.90 | 0.94 | 0.81 | 0.53 | 0.92 | 0.86 |
rs12944039 | intronic | A(0.20)/G(0.80) | 0.014 | 0.0007 | 0.000018 | 0.0023 | 0.37 | 0.025 |
rs2314810 | intronic | C(0.06)/G(0.94) | 0.38 | 0.17 | 0.32 | 0.48 | 0.59 | 0.22 |
rs2248814 | intronic | A(0.42)/G(0.58) | 0.60 | 0.51 | 0.0036 | 0.059 | 0.61 | 1.00 |
rs2297518 | non-synonymous coding | A(0.20)/G(0.80) | 0.89 | 0.53 | 0.65 | 0.67 | 0.76 | 0.40 |
rs2297516 | intronic | A(0.64)/C(0.36) | 0.062 | 0.038 | 0.000004 | 0.0023 | 0.73 | 0.36 |
rs2297515 | intronic | A(0.86)/C(0.14) | 0.30 | 0.53 | 0.72 | 0.47 | 0.40 | 0.70 |
rs1060826 | synonymous coding | A(0.41)/G(0.59) | 0.47 | 0.56 | 0.0098 | 0.096 | 0.83 | 0.94 |
rs2255929 | intronic | A(0.41)/T(0.59) | 0.043 | 0.066 | 0.000036 | 0.0027 | 0.57 | 0.50 |
NOS3: | ||||||||
rs1800783 | intronic | A(0.41)/T(0.59) | 0.12 | 0.42 | 0.062 | 0.45 | 0.38 | 0.60 |
rs1549758 | synonymous coding | C(0.68)/T(0.32) | 0.79 | 0.23 | 0.71 | 0.50 | 0.48 | 0.32 |
rs1799983 | non-synonymous coding | G(0.66)/T(0.34) | 0.92 | 0.14 | 0.98 | 0.24 | 0.88 | 0.29 |
rs3918227 | intronic | A(0.09)/C(0.91) | 0.11 | 0.15 | 0.16 | 0.13 | 0.30 | 0.38 |
rs1808593 | intronic | A(0.75)/C(0.25) | 0.17 | 0.90 | 0.16 | 0.52 | 0.46 | 0.83 |