Table A1.
Gene | Polymorphism | Commercial Assay Codes † | Allelic Frequency ‡ | Allelic Frequency § | Gene Location | Impact on the Gene or Protein |
---|---|---|---|---|---|---|
VEGFA | rs1570360 | C_1647379_10 | A = 34% | A = 24% | promoter | VEGFA gene expression |
rs2010963 | C_8311614_10 | C = 29% | C = 36% | 5′UTR | VEGFA gene expression | |
rs3025039 | C_16198794_10 | T = 15% | T = 13% | 3′UTR | VEGFA mRNA concentration | |
PTGS2 | rs689465 | C_2517146_10 | C = 12% | - | promoter | In combination with other genetic variants in haplotypes, it affects PTGS2 expression |
NOS3 | rs2070744 | C_15903863_10 | C = 37% | - | intron | NOS3 gene expression |
rs1799983 | C_3219460_20 | T = 32% | T = 29% | missense | eNOS enzyme activity | |
TNF | rs1799724 | C_11918223_10 | T = 9% | - | promoter | TNF gene expression |
rs361525 | C_2215707_10 | A = 4% | A = 5% | promoter | TNF gene expression | |
rs1799964 | C_7514871_10 | C = 20% | C = 24% | promoter | TNF gene expression | |
NOS2 | rs2779249 | C_2593689_10 | A = 29% | - | intron | iNOS protein activity |
rs2297518 | C_11889257_10 | A = 19% | A = 17% | missense | iNOS protein activity |
† TaqMan assays used to genotype the polymorsphisms in this study; ‡ Data from gnomAD database (European non-Finnish population); § Data from AbraOM database (Brazilian population).