Table 1.
SNPs analyzed in Cohort II.
| Gene | SNP | Nucleotides | Phenotype | Findings/clinical correlations |
|---|---|---|---|---|
| BPI | rs1341023 | C/T | Ala16Val | – |
| rs4358188 | A/G | Glu216Lys | Rapid airflow decline after HSCT (Chien, Zhao et al. 2006) | |
| LessaGVHD after HCT (Wermke, Maiwald et al. 2010) | ||||
| rs1131847 | A/G | 3′ UTR | Plasma BPI protein levels (Gubern, Lopez-Bermejo et al. 2006) | |
| rs6099106 | C/T | intronic | COPD (Chen, Ou et al. 2012) LPS | |
| CD14 | rs2569190 | A/G | promoter | Airway inflammation with LPS exposure (Smit, Heederik et al. 2011) |
| sCD14 levels in blood (Levan, Michel et al. 2008; Munthe-Kaas, Torjussen et al. 2010) | ||||
| Increased promoter activity (LeVan, Bloom et al. 2001; Mertens, Bregadze et al. 2009) | ||||
| Survival in ICU patients (Fallavena, Borges et al. 2009) | ||||
| rs2569191 | C/T | – | sCD14 levels in blood(Munthe-Kaas, Torjussen et al. 2010) | |
| Airway inflammation (Smit, Heederik et al. 2011) | ||||
| LBP | rs2232571 | C/T | promoter | Severe sepsis (Flores, Perez-Mendez et al. 2009) |
| rs2232582 | C/T | promoter | Gram-negative bacteremia after HCT (Chien, Boeckh et al. 2008) | |
| rs2232613 | C/T | Pro333Leu | – | |
| rs2232618 | C/T | Phe436Leu | Susceptibility to sepsis and MOD (Zeng, Gu et al. 2012) | |
| Mal/TIRAP | rs8177374 | C/T | Ser180Leu | Severe infections after surgery (Kumpf, Giamarellos-Bourboulis et al. 2010) |
| MD-2 | rs6472812 | A/G | Gly56Arg | – |
| TLR2 | rs5743708 | A/G | Arg753Gln | Reduced responsiveness to TLR ligands (Lorenz, Mira et al. 2000) |
| rs1898830 | A/G | – | Bronchiolitis obliterans after lung transplantation (Kastelijn, van Moorsel et al. 2010) | |
| rs1816702 | C/T | – | Monocyte activation (Bielinski, Hall et al. 2011) | |
| TLR4 | rs4986790 | A/G | Asp299Gly | Severe infections after surgery (Kumpf, Giamarellos-Bourboulis et al. 2010) |
| Hypo-responsiveness to LPS (Arbour, Lorenz et al. 2000; Guo, Loke et al. 2009) | ||||
| Gram-negative bacterial infection (Agnese, Calvano et al. 2002) | ||||
| Allograft rejection (Palmer, Burch et al. 2003) | ||||
| rs4986791 | C/T | Thr399Ile | Severe infections after surgery (Kumpf, Giamarellos-Bourboulis et al. 2010) | |
| Hypo-responsiveness to LPS (Arbour, Lorenz et al. 2000; Guo, Loke et al. 2009) | ||||
| Gram-negative bacterial infection (Agnese, Calvano et al. 2002) | ||||
| Allograft rejection (Palmer, Burch et al. 2003) |
MOD: multiple organ dysfuction; COPD: chronic obstructive pulmonary disease; ICU: intensive care unit.