Table 3 Candidate Gene Associations
Gene | rsID | PPCA | PCRUDE | ORADJ (95% CI) | PADJ | MAF | Call Rate | PHWE | Region | Position |
|---|---|---|---|---|---|---|---|---|---|---|
a) Mechanistic candidates from the top 300 SNPs | ||||||||||
CACNA1C †(LQT8) | rs7132154 | 9.29E-05 | 4.72E-04 | 1.18(1.079,1.290) | 3.09E-04 | 0.262 | 0.992 | 1.000000 | 12p13.33 | 2331484 |
NOS3 | rs17173656 | 5.41E-05 | 3.09E-04 | 1.13(1.068,1.190) | 1.53E-05 | 0.102 | 1.000 | 0.786064 | 7q36.1 | 150229592 |
b) Candidate genes for SCA with evidence from the literature | ||||||||||
AGTR1* | rs2639365 | 6.16E-04 | 6.20E-04 | 1.13(1.042,1.215) | 3.00E-03 | 0.059 | 0.998 | 0.317805 | 3q24 | 149783168 |
CSMD2 | rs1325258 | 2.64E-04 | 5.74E-04 | 2.27(1.681, 2.859) | 6.10E-03 | 0.095 | 0.995 | 0.768301 | 1p35.1 | 34250168 |
KNG1 | rs1624230 | 3.30E-01 | 2.22E-01 | 0.99(0.936,1.036) | 5.60E-01 | 0.130 | 0.974 | 0.336813 | 3q27.3 | 187921629 |
NOS1AP †| rs4292933 | 3.90E-02 | 1.19E-02 | 1.15(1.003,1.326) | 4.50E-02 | 0.189 | 0.998 | 0.109458 | 1q23.3 | 160417164 |
c) Candidate genes for SCA found in monogenic SCD syndromes (LQT genes) | ||||||||||
ANK2(LQT4)†| rs399754 | 5.17E-03 | 4.96E-03 | 1.14(1.052,1.244) | 2.00E-03 | 0.328 | 0.964 | 0.117906 | 4q26 | 114311766 |
CAV3(LQT9)†| rs17788626 | 4.63E-01 | 4.96E-01 | 1.00(0.932,1.076) | 9.69E-01 | 0.371 | 0.998 | 0.851542 | 3p25.3 | 8731423 |
KCNE1(LQT5) | rs11702354 | 2.04E-02 | 2.25E-02 | 0.96(0.924,1.00) | 4.90E-02 | 0.277 | 0.957 | 0.152965 | 21q22.12 | 34806395 |
KCNE2(LQT6) | rs2834455 | 5.09E-04 | 1.28E-03 | 1.08(1.026,1.128) | 2.00E-03 | 0.145 | 0.987 | 0.565697 | 21q22.11 | 34631628 |
KCNJ2(LQT7)†| rs12449606 | 2.27E-02 | 2.12E-02 | 1.12(1.024,1.236) | 1.40E-02 | 0.250 | 0.998 | 0.625543 | 17q24.3 | 65660406 |
KCNQ1(LQT1) †| rs2237877 | 2.21E-02 | 1.49E-02 | 1.17(1.062,1.295) | 2.00E-03 | 0.226 | 1.000 | 0.433296 | 11p15.5 | 2722810 |
SCN5A(LQT3)* | rs6422142 | 1.57E-03 | 1.92E-03 | 1.11(1.044,1.178) | 1.00E-03 | 0.102 | 1.000 | 0.786064 | 3p22.2 | 38678162 |