TABLE 1.
Genetic Polymorphisms Evaluated in the Study
| Gene (Symbol) | Nucleotide Substitution | Genomic Context | SNPid* | Cytogenetic Locus | Minor Allele Frequency (unaffected) |
|---|---|---|---|---|---|
| Bactericidal/permeability-increasing protein (BPI) | 270T > C | Val16Ala | rs1341023 | 20q11.23-q12 | 0.4755 |
| Catalase (CAT) | −844C > T | 5“UTR | rs769214 | 11p13 | 0.3485 |
| −262C > T | 5”UTR | rs1001179 | 0.1915 | ||
| −21A > T | 5′UTR | rs17880664 | 0.372 | ||
| Cathepsin G (CTSG) | 2108A > G | Asp125Ser | SNP014† | 14q11.2 | 0.0812 |
| CD14 Antigen (CD14) | −260C > T | 5′UTR | rs2569190 | 5q31.1 | 0.4754 |
| C-reactive protein (CRP) | 1059G > C | Leu184Leu | rs1800947 | 1q21-q23 | 0.072 |
| 1846 C > T | 3′UTR | rs1205 | 0.3116 | ||
| Endothelial nitric oxide synthase (NOS3) | −786T > C | 5′UTR | rs2070744 | 7q36 | 0.3551 |
| 894G > T | Glu298Asp | rs1799983 | 0.3179 | ||
| 20628G > T | Intron | rs1799985 | 0.3121 | ||
| E-selectin (SELE) | 98G > T | 5′UTR | rs1805193 | 1q23-q25 | 0.1088 |
| 561A > C | Ser149Arg | rs5361 | 0.093 | ||
| 1839C > T | Leu575Phe | rs5355 | 0.0583 | ||
| Heat shock protein 70-homologous (HSPA1L) | 1478C > T | Thr493Met | rs2227956 | 6p21.3 | 0.179 |
| 1804G > A | Glu602Lys | rs2075800 | 0.2463 | ||
| Intercellular adhesion molecule-1 (ICAM1) | 778G > A | Gly241Arg | rs1799969 | 19p13.3- | 0.0891 |
| 1112C > T | Pro352Leu | rs1801714 | p13.2 | 0.0281 | |
| 1462A > G | Lys469Glu | rs5498 | 0.3631 | ||
| Interleukin 1-alpha (IL1A) | −889C > T | 5′UTR | rs1800587 | 2q14 | 0.3244 |
| 10876G > T | Ala114Ser | rs17561 | 0.2997 | ||
| Interleukin 1-beta (IL1B) | −511T > C | 5′UTR | rs16944 | 2q14 | 0.3546 |
| 5810G > A | Intron | rs1143633 | 0.3171 | ||
| 5887C > T | Phe105Phe | rs1143634 | 0.2123 | ||
| Interleukin 1-receptor antagonist (IL1RN) | 13760T > C | Ala39Ala | rs2229235 | 2q14.2 | 0.2767 |
| 16857T > C | Ser112Ser | rs315952 | 0.3023 | ||
| Interleukin 6 (IL6) | −597G > A | 5′UTR | rs1800797 | 7p21 | 0.4351 |
| −572G > C | 5′UTR | rs1800796 | 0.0447 | ||
| −174G > C | 5′UTR | rs1800795 | 0.4412 | ||
| Interleukin 8 (IL8) | −251A > T | 5′UTR | rs4073 | 4q12-q13 | 0.4671 |
| Interleukin 10 (IL10) | −819C > T | 5′UTR | rs3021097 | 1q31-q32 | 0.27 |
| −592C > A | 5′UTR | rs1800872 | 0.2644 | ||
| Lipopolysaccharide-binding protein (LBP) | 19983T > C | Pro97Pro | rs2232582 | 2q11.23-q12 | 0.1516 |
| 42711T > C | Phe436Leu | rs2232618 | 0.1017 | ||
| Platelet-endothelial cell adhesion molecule-1 (PECAM1) | 1688G > A | Ser563Asn | rs12953 | 17q23 | 0.3613 |
| P-selectin (SELP) | −1969A > G | 5′UTR | rs1800805 | 1q23-q25 | 0.4195 |
| 1087G > A | Ser331Asn | rs6131 | 0.1943 | ||
| 1902A > G | Asn603Asp | rs6127 | 0.3576 | ||
| 2013G > T | Val640Leu | rs6133 | 0.1393 | ||
| 2361A > C | Thr756Pro | rs6136 | 0.1179 | ||
| Superoxide dismutase 3 (SOD3) | 760C > G | Arg231Gly | rs1799895 | 4pter-q21 | 0.0066 |
| Toll-like receptor 4 (TLR4) | 896A > G | Asp299Gly | rs4986790 | 9q32-q33 | 0.0634 |
| 1196C > T | Thr399Ile | rs4986791 | 0.0888 | ||
| Thrombomodulin (THBD) | 1959C > T | Ala473Val | rs1042579 | 20p11.2 | 0.1804 |
| Tumor necrosis-alpha (TNFA) | −308G > A | 5′UTR | rs1800629 | 6p21.3 | 0.1628 |
| −238G > A | 5′UTR | rs361525 | 0.0418 | ||
| 1078G > A | Intron | rs1800610 | 0.0672 | ||
| Vascular cell adhesion molecule-1 (VCAM1) | −1594T > C | 5′UTR | rs1800821 | 1p32-p31 | 0.1705 |
*
From NCBI’s dbSNP public database (http://www.ncbi.nlm.nih.gov/SNP/).
†
Duke internal polymorphism ID number.
UTR indicates untranslated region.