Table 4. The 64 validated exonic SNVs and their distribution between different groups.
Gene Information |
Comparison between survived and deceased |
Comparison between the first 8 patients and the additional 10 pateints |
Comparison between case and control |
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Gene | Chr | Pos | Ref | Alt | Mutation in 12 survivors | Mutation in 6 decedents | P-value | Mutation in first 8 patients | Mutation in the other 10 pateints | P-value | 1000 Genome | Inhouse control | dbSNP | P-value between case and inhouse control |
CPT2 | chr1 | 53676401 | T | G | 5 | 2 | 1 | 4 | 3 | 1 | 0.06 | 0.2104 | rs2229291 | 0.352872195 |
CPT2 | chr1 | 53676448 | G | A | 12 | 4 | 0.4 | 8 | 8 | 0.7 | 0.5 | 0.669 | rs1799821 | 0.107976012 |
CPT2 | chr1 | 53679028 | G | A | 1 | 0 | 0.7 | 1 | 0 | 0.7 | 0.0008 | 0.019710021 | ||
CPT2 | chr1 | 53679229 | A | G | 2 | 3 | 1 | 4 | 1 | 1 | 0.13 | 0.1368 | rs1799822 | 1 |
FCGR2A | chr1 | 161479745 | A | G | 6 | 3 | 0.7 | 3 | 6 | 0.4 | 0.43 | 0.4777 | rs1801274 | 0.023221855 |
IFITM3 | chr11 | 320649 | G | A | 0 | 2 | 0.2 | 0 | 2 | 0.2 | 0.2488 | rs11553885 | 0.140015157 | |
IFITM3 | chr11 | 320772 | A | G | 12 | 5 | 0.1 | 8 | 9 | 0.2 | 0.21 | 0.3101 | rs12252 | 0.110209014 |
RPAIN | chr17 | 5326145 | C | G | 12 | 5 | 0.4 | 8 | 9 | 0.4 | 0.43 | 0.6017 | rs12761 | 0.036500478 |
TLR3 | chr4 | 187004074 | C | T | 9 | 2 | 0.1 | 6 | 5 | 0.4 | 0.25 | 0.3324 | rs3775291 | 0.028998842 |
TLR3 | chr4 | 187004217 | C | T | 5 | 4 | 1 | 3 | 9 | 0.1 | 0.28 | 0.3702 | rs3775290 | 0.192232214 |
TLR2 | chr4 | 154624656 | T | C | 5 | 5 | 0.7 | 5 | 5 | 0.7 | 0.43 | 0.4474 | rs3804099 | 0.622004107 |
TLR2 | chr4 | 154625259 | A | G | 1 | 0 | 0.7 | 1 | 0 | 0.7 | 0.0023 | 0.0239 | rs144038898 | 0.32478413 |
TLR2 | chr4 | 154625409 | T | C | 4 | 5 | 1 | 4 | 5 | 1 | 0.12 | 0.4378 | rs3804100 | 0.801147802 |
HLA-DQA1 | chr6 | 32605284 | G | A | 1 | 0 | 0.2 | 1 | 0 | 0.2 | 0.06 | 0.0766 | rs12722039 | 0.350824196 |
HLA-DQA1 | chr6 | 32605309 | A | G | 1 | 0 | 0.2 | 1 | 0 | 0.2 | 0.06 | 0.0622 | rs12722042 | 0.263992352 |
HLA-DQA1 | chr6 | 32609094 | C | T | 2 | 5 | 0.4 | 2 | 5 | 0.4 | 0.35 | 0.2225 | rs1129737 | 0.54610042 |
HLA-DQA1 | chr6 | 32609147 | A | T | 0 | 2 | 1 | 0 | 2 | 1 | 0.19 | 0.2679 | rs12722051 | 0.262995374 |
HLA-DQA1 | chr6 | 32609173 | C | G | 2 | 5 | 0.2 | 2 | 5 | 0.2 | 0.4 | 0.2656 | rs10093 | 0.264047871 |
HLA-DQA1 | chr6 | 32609195 | G | A | 1 | 5 | 1 | 1 | 5 | 1 | 0.09 | 0.1675 | rs36219699 | 1 |
HLA-DQA1 | chr6 | 32609813 | T | C | 5 | 8 | 0.4 | 5 | 8 | 0.4 | 0.66 | 0.2919 | rs707951 | 0.174782886 |
HLA-DQA1 | chr6 | 32610436 | T | C | 6 | 8 | 0.4 | 6 | 8 | 0.4 | 0.61 | 0.2679 | rs1048372 | 0.262995374 |
HLA-DQA1 | chr6 | 32610535 | A | C | 6 | 8 | 0.4 | 6 | 8 | 0.4 | 0.57 | 0.2703 | rs1130116 | 0.262188523 |
HLA-DQB1 | chr6 | 32629129 | T | C | 1 | 2 | 0.4 | 1 | 2 | 0.4 | 0.19 | 0.2416 | rs1130432 | 0.384909932 |
HLA-DQB1 | chr6 | 32629155 | C | A | 1 | 2 | 0.4 | 1 | 2 | 0.4 | 0.23 | 0.2153 | rs17412886 | 0.545857944 |
HLA-DQB1 | chr6 | 32629847 | A | G | 7 | 9 | 0.7 | 7 | 9 | 0.7 | 0.8 | 0.3541 | rs1049133 | 0.444388806 |
HLA-DQB1 | chr6 | 32629859 | A | G | 6 | 9 | 0.7 | 6 | 9 | 0.7 | 0.65 | 0.3421 | rs1049130 | 0.59863218 |
HLA-DQB1 | chr6 | 32629868 | A | G | 2 | 5 | 1 | 2 | 5 | 0.1 | 0.18 | 0.134 | rs1049088 | 1 |
HLA-DQB1 | chr6 | 32629889 | G | A | 5 | 7 | 0.4 | 5 | 7 | 0.4 | 0.44 | 0.2392 | rs1049087 | 0.385697708 |
HLA-DQB1 | chr6 | 32629904 | A | G | 5 | 6 | 0.4 | 5 | 6 | 0.4 | 0.6 | 0.2656 | rs1049086 | 0.264047871 |
HLA-DQB1 | chr6 | 32629936 | C | T | 1 | 2 | 0.4 | 1 | 2 | 0.4 | 0.21 | 0.2057 | rs1049107 | 0.548651412 |
HLA-DQB1 | chr6 | 32629963 | C | T | 1 | 2 | 0.4 | 1 | 2 | 0.4 | 0.2 | 0.177 | rs1049100 | 0.752136224 |
HLA-DQB1 | chr6 | 32634313 | C | G | 1 | 2 | 0.4 | 1 | 2 | 0.4 | 0.21 | 0.0885 | rs1049059 | 0.646223667 |
HLA-DQB1 | chr6 | 32634369 | C | A | 1 | 2 | 0.4 | 1 | 2 | 0.4 | 0.21 | 0.0981 | rs1049056 | 0.664995324 |
HLA-DRB1 | chr6 | 32549596 | T | C | 8 | 4 | 0.4 | 8 | 4 | 0.4 | 0.311 | rs111823233 | 0.171375278 | |
NOS3 | chr7 | 150695726 | T | C | 8 | 9 | 0.7 | 8 | 9 | 0.7 | 0.78 | 0.6699 | rs1549758 | 0.182947056 |
NOS3 | chr7 | 150696111 | T | G | 8 | 9 | 0.4 | 8 | 9 | 0.4 | 0.8 | 0.8732 | rs1799983 | 1 |
NOS3 | chr7 | 150704250 | C | G | 4 | 1 | 1 | 4 | 1 | 1 | 0.42 | 0.5096 | rs2566514 | 0.04531093 |
ABCB1 | chr7 | 87138645 | A | G | 7 | 8 | 0.7 | 7 | 8 | 0.7 | 0.6 | 0.6507 | rs1045642 | 0.110998732 |
ABCB1 | chr7 | 87160618 | A | T or C | 7 | 5 | 0.7 | 7 | 5 | 0.7 | 0.1244 | rs2032582 | 0.709435825 | |
ABCB1 | chr7 | 87179601 | A | G | 3 | 4 | 0.7 | 3 | 4 | 0.7 | 0.58 | 0.4617 | rs1128503 | 0.040826503 |
LEP | chr7 | 127892124 | A | G | 1 | 0 | 0.7 | 1 | 0 | 0.7 | 0.0005 | 0.0024 | rs148407750 | 0.039055387 |
TLR4 | chr9 | 120470894 | C | G | 1 | 0 | 0.7 | 1 | 0 | 0.7 | – | 0.00990099 | ||
MBL2 | chr10 | 54528266 | G | C | 8 | 9 | 1 | 8 | 9 | 1 | 0.77 | 0.6388 | rs930507 | 0.194023134 |
MBL2 | chr10 | 54531235 | C | T | 3 | 3 | 1 | 3 | 3 | 1 | 0.12 | 0.2057 | rs1800450 | 1 |
ZNF365 | chr10 | 64159333 | G | T | 7 | 7 | 0.7 | 7 | 7 | 0.7 | 0.49 | 0.7967 | rs3758490 | 0.11468297 |
ZNF365 | chr10 | 64415184 | A | G | 8 | 9 | 1 | 8 | 9 | 1 | 0.85 | 0.9115 | rs7076156 | 1 |
ZNF365 | chr10 | 64416220 | C | T | 0 | 1 | 0.7 | 0 | 1 | 0.7 | 0.02 | 0.0359 | rs76895268 | 0.444340031 |
KLRC2 | chr12 | 10587111 | A | G | 2 | 9 | 1 | 2 | 9 | 1 | 0.76 | 0.4234 | rs1141715 | 0.003533467 |
KLRC2 | chr12 | 10588530 | C | G | 6 | 5 | 1 | 6 | 5 | 1 | 0.26 | 0.4785 | rs34195537 | 0.004729536 |
CES1 | chr16 | 55844509 | T | C | 2 | 0 | 0.7 | 2 | 0 | 0.7 | – | 0.00990099 | ||
CES1 | chr16 | 55853545 | C | A | 0 | 4 | 0.7 | 0 | 4 | 0.7 | 0.04 | 0.0407 | rs115629050 | 0.488479286 |
CES1 | chr16 | 55855361 | G | T | 1 | 0 | 0.7 | 1 | 0 | 0.7 | 0.04 | 0.0311 | rs2307227 | 0.396649049 |
DNMT1 | chr19 | 10251572 | G | C | 1 | 0 | 0.7 | 1 | 0 | 0.7 | 0.0037 | 0.0072 | rs144675407 | 0.112914886 |
DNMT1 | chr19 | 10265312 | T | C | 8 | 9 | 0.4 | 8 | 9 | 0.4 | 0.99 | 0.7297 | rs721186 | 0.00938611 |
DNMT1 | chr19 | 10265333 | A | G | 1 | 0 | 0.7 | 1 | 0 | 0.7 | – | 0.00990099 | ||
DNMT1 | chr19 | 10265372 | C | T | 1 | 0 | 0.7 | 1 | 0 | 0.7 | 0.0005 | – | rs140376680 | 0.00990099 |
DNMT1 | chr19 | 10267077 | T | C | 8 | 7 | 0.4 | 8 | 7 | 0.4 | 0.54 | 0.6388 | rs2228611 | 0.194023134 |
DNMT1 | chr19 | 10291181 | T | C | 0 | 2 | 0.2 | 0 | 2 | 0.2 | 0.06 | 0.3756 | rs16999593 | 0.437380251 |
IFNAR1 | chr21 | 34715699 | G | C | 4 | 7 | 0.1 | 4 | 7 | 0.1 | 0.21 | 0.5239 | rs2257167 | 0.129919992 |
MX1 | chr21 | 42812891 | C | T | 1 | 2 | 1 | 1 | 2 | 1 | 0.36 | 0.177 | rs467960 | 0.332738289 |
MX1 | chr21 | 42817930 | G | A | 1 | 1 | 1 | 1 | 1 | 1 | 0.43 | 0.4474 | rs469390 | 0.001564732 |
MX1 | chr21 | 42821113 | T | C | 4 | 2 | 0.4 | 4 | 2 | 0.4 | 0.35 | 0.3278 | rs2070229 | 0.422944246 |
MX1 | chr21 | 42824661 | A | G | 4 | 4 | 0.7 | 4 | 4 | 0.7 | 0.27 | 0.5215 | rs1050008 | 0.042066821 |
IL10RB | chr21 | 34640788 | A | G | 8 | 1 | 0.1 | 8 | 1 | 0.1 | 0.35 | 0.7392 | rs2834167 | 1 |