ABC | Volume 111, Nº1, July 2018

Original Article Pereira et al. Genes and coronary artery disease risk Arq Bras Cardiol. 2018; 111(1):50-61 Supplementary Table 1 – List of the 33 genetic variants previously associated with coronary artery disease risk, used for the development of the genetic risk score in the study population SNP ID Nearest gene Chr Position Genotypic OR (95%CI) p value Allelic OR (95%CI) p value MAF (%) Potential Mechanism of Action rs1333049 9p21.3 9 22125504 1.147 (1.036-1.270) + 0.008 1.155 (1.041-1.282) 0.007 45.8 Cellular rs4977574 CDKN2B 9 22098575 1.161 (1.049-1.286) + 0.004 1.172 (1.056-1.302) 0.003 42.0 Cellular rs618675 GJA4 1 34922761 1.143 (0.792-1.649)* 0.475 1.046 (0.918-1.191) 0.502 19.6 Cellular rs17228212 SMAD3 15 65245693 1.202 (0.888-1.629)* 0.234 1.025 (0.910-1.155) 0.684 25.3 Cellular rs17465637 MIA3 1 222650187 1.088 (0.971-1.220) + 0.148 1.088 (0.971-1.220) 0.147 28.6 Cellular rs12190287 TCF21 6 134256218 1.230 (1.100-1.375) + < 0.0001 1.226 (1.098-1.368) 0.0003 32.7 Cellular rs3825807 ADAMTS7 15 76876166 1.073- (0.967-1.191) + 0.185 1.074 (0.967-1.194) 0.181 41.2 Cellular rs11556924 ZC3HC1 7 130023656 1.227 (1.058-1.423)* 0 .007 1.157 (1.037-1.290 ) 0.009 34.3 Cellular rs1332844 PHACTR1 6 12927312 1.113 (1.003-1.235) + 0.044 1.113 (1.003-1.236) 0.043 44.3 Cellular rs2114580 PCSK9 1 55167236 1.079 (0.821-1.417)* 0.587 0.974 (0.866-1.096) 0.665 26.3 Lipids rs3798220 LPA 6 160540105 1.484 (1.212-1.816) + < 0.0001 2.167 (1.452-3.235) < 0.0001 2.1 Lipids rs20455 KIF6 6 39357302 1.129 (0.896-1.424)* 0.306 1.060 (0.949-1.184) 0.302 32.8 Lipids rs7412/ rs429358 1 APOE 1 19 44908822/ 44908684 1.261 (1.062-1.497) # 0.008 1.231 (1.056-1.435) 0.008 13.4 Lipids rs964184 ZNF259 11 116778201 1.131 (0.986-1.298) + 0.078 1.130 (0.986-1.295) 0.079 17.7 Lipids rs599839 PSRC1 1 109279544 1.059 (0.933-1.203) + 0.375 1.058 (0.933-1.201) 0.379 21.4 Lipids rs1801133 MTHFR 677 1 11796321 1.178 (1.017-1.365) # 0.029 1.114 (0.998-1.243) 0.055 33.5 Oxidation rs1801131 MTHFR 1298 1 11794419 0.944 (0.816-1.093) # 0.443 0.958 (0.854-1.075) 0.465 28.0 Oxidation rs705379 PON -108 7 96324583 1.135 (0.950-1.355) # 0.163 1.068 (0.962-1.184) 0.217 46.4 Oxidation rs662 PON 192 7 95308134 0.836 (0.652-1.072)* 0.157 0.927 (0.828-1.037) 0.186 30.1 Oxidation rs854560 PON 55 7 95316772 1.161 (1.044-1.290) + 0.006 1.161 (1.044-1.290) 0.006 40.4 Oxidation rs6922269 MTHFD1L 6 150931849 1.067 (0.804-1.416)* 0.653 0.996 (0.887-1.118) 0.943 27.3 Oxidation rs5186 AT1R 3 148742201 1.245 (0.906-1.710)* 0.177 1.062 (0.942-1.198) 0.323 24.7 RAS rs699 AGT 1 230710048 0.932 (0.798-1.090) # 0.380 0.969 (0.873-1.076) 0.552 42.9 RAS rs4340 ACE 17 61565892 1.165 (1.001-1.355)* 0.048 1.083 (0.973-1.205) 0.143 38.1 RAS rs4402960 IGF2BP2 3 185793899 1.124 (0.876-1.443)* 0.358 1.020 (0.911-1.141) 0.736 30.8 Diab/Obes rs1326634 SLC30A8 8 117172544 1.213 (0.914-1.609) # 0.181 1.081 (0.961-1.217) 0.195 25.8 Diab/Obes rs266729 ADIPOQ 3 186841685 1.209 (1.041-1.403) # 0.013 1.165 (1.030-1.318) 0.015 23.3 Diab/Obes rs7903146 TCF7L2 10 112998590 0.961 (0.862-1.072) + 0.480 0.962 (0.863-1.072) 0.482 35.3 Diab/Obes rs17782313 MC4R 18 60183864 1.314 (0.931-1.855)* 0.120 1.016 (0.896-1.152) 0.806 21.6 Diab/Obes rs1801282 PPARG 3 12351626 1.427 (0.717-2.843) # 0.309 1.164 (0.970-1.396) 0.102 8.8 Diab/Obes rs1884613 HNF4A 20 44351775 1.159 (0.987-1.360) # 0.072 1.106 (0.960-1.273) 0.163 16.2 Diab/Obes rs8050136 FTO 16 53782363 1.194 (1.026-1.390) # 0.022 1.129 (1.016-1.255) 0.025 39.7 Diab/Obes rs1376251 TAS2R 50 12 11030119 1.556 (0.767-3.155)* 0.217 1.080 (0.920-1.267) 0.349 11.9 Diab/Obes SNP: Single Nucleotide Polymorphism; Chr: Chromosome; OR: Odds Ratio; CI: Confidence Interval; MAF: Minor Allele Frequency; RAS: Renin-Angiotensin System; Diab/Obes: Diabetes/Obesity; + Additive model;*Recessive model; # Dominant model; 1 Resulting from a Haplotype; Table shows susceptibility loci for coronary artery disease, genotypic and allelic ORs and p values for the lead SNP within each locus reported in genome-wide association studies and candidate gene studies. Genotypic ORs are given for additive, recessive and dominant models. Potential mechanism of action is on the basis of what is already known about the function of the nearby genes. It includes “Cellular” (genes associated to cell cycle, cellular migration and inflammation); “Oxidation” (genes involved in pro-oxidative status) and associated with modifiable risk factors such as “Lipids” metabolism, hypertension (“RAS”) and Diabetes/Obesity. 60