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Positive genetic association studies with acute lung injury/acute respiratory distress syndrome susceptibility and/or outcome (by year of publication) |
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| Gene |
Associated variant(s)a |
Sample size (case/control) |
Sample size (cohort) |
Phenotype(s) |
Population |
Reference (year) |
|
|
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| SFTPB |
T/C +1580 |
52:46 |
ARDS |
European |
[21] (2000) |
|
|
|
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| IL-6 |
G/C -174 |
96 ARDS |
Mortality |
European |
[22] (2002) |
|
|
|
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| ACE |
I/D intron 16 |
96:2,168 |
ARDS, mortality |
European |
[23] (2002) |
|
|
|
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| SFTPB |
T/C +1580 |
402 CAP |
ARDS |
Multiethnic |
[24] (2004) |
|
|
|
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| SFTPB |
Intron 4 TR |
189 at risk of ARDS |
ARDS |
Multiethnic |
[25] (2004) |
|
|
|
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| PBEF |
T/G -1001 and haplotype |
87:84 |
ALI |
European |
[26] (2005) |
|
|
|
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| MBL2 |
Haplotypes |
569:1,188 |
SARS |
Chinese |
[27] (2005) |
|
|
|
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| IL-6 |
Gene-wide haplotypes |
228 SIRS |
ALI, need of MV |
European |
[28] (2005) |
|
|
|
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| IL-6 |
Haplotype |
98:84 |
ALI |
European |
[29] (2005) |
|
|
|
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| TNF |
G/A -308 |
212:441 |
ARDS, mortality |
European |
[30] (2005) |
|
|
|
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| VEGF |
C/T +936 |
117:240 |
ARDS, severity |
European |
[31] (2005) |
|
|
|
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| MYLK |
Multiple SNPs and haplotypes |
138:146 |
ALI |
Multiethnic |
[32] (2006) |
|
|
|
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| IL-10 |
A/G -1082 |
211:429 |
ARDS, severity |
European |
[33] (2006) |
|
|
|
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| ACE |
I/D intron 16 |
101:348 |
ARDS mortality |
Chinese |
[34] (2006) |
|
|
|
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| MIF |
Haplotypes |
151:173 |
ALI |
Multiethnic |
[35] (2007) |
|
|
|
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| PBEF |
T/G -1001 and haplotype |
375:787 |
ARDS, mortality |
European |
[36] (2007) |
|
|
|
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| NRF2 |
C/A -617 |
90 major trauma |
ALI |
Multiethnic |
[37] (2007) |
|
|
|
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| CXCL2 |
-665 TR |
183 severe sepsis |
ARDS mortality |
European |
[38] (2007) |
|
|
|
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| MBL2 |
Gly54Asp |
212:442 |
ARDS, severity |
European |
[39] (2007) |
|
|
|
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| ACE |
I/D intron 16 |
84:200 |
ARDS mortality |
European |
[40] (2007) |
|
|
|
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| NFKBIA |
Haplotype |
382:828 |
ARDS |
European |
[41] (2007) |
|
|
|
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| NFKB1 |
Ins/del ATTG -94 |
103 ARDS |
Severity |
European |
[42] (2007) |
|
|
|
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| VEGF |
C/T +936 and haplotype |
394 ARDS |
Mortality |
European |
[43] (2007) |
|
|
|
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| PLAU |
Gene-wide haplotype |
175:252 |
ALI, severity |
European |
[44] (2008) |
|
|
|
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| MYLK |
3 variants and multiple haplotypes |
273 major trauma |
ALI |
Multiethnic |
[45] (2008) |
|
|
|
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| MBL2 |
Haplotypes |
848 CAP |
ARDS |
European |
[46] (2008) |
|
|
|
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| IL-6 |
Gene-wide haplotype |
67:96 |
ALI |
European |
[47] (2008) |
|
|
|
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| IL-10 |
A/G -1082 |
100 severe multiple trauma |
ARDS |
European |
[48] (2008) |
|
|
|
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| F5 |
Arg506Gln |
106 ARDS |
Mortality |
European |
[49] (2008) |
|
|
aNames are those originally reported in the corresponding reference. Ins/del, insertion-deletion polymorphism. ACE, angiotensin-converting enzyme; ALI, acute lung injury; ARDS, acute respiratory distress syndrome; CAP, community-acquired pneumonia; CXCL2, chemokine CXC motif ligand 2; F5, coagulation factor V; IL-6, interleukin-6; IL-10, interleukin-10; MBL2, mannose-binding lectin-2; MIF, macrophage migration inhibitory factor; MV, mechanical ventilation; MYLK, myosin light-chain kinase; NFKB1, nuclear factor kappa light polypeptide gene enhancer in B cells; NFKBIA, nuclear factor kappa light polypeptide gene enhancer in B cells inhibitor alpha; NRF2, nuclear factor erythroid-derived 2 factor; PBEF, pre-B cell-enhancing factor; PLAU, plasminogen activator urokinase; SARS, severe acute respiratory syndrome; SFTPB, surfactant pulmonary-associated protein B; SIRS, systemic inflammatory response syndrome; SNP, single-nucleotide polymorphism; TNF, tumor necrosis factor; TR, tandem repeat (polymorphism); VEGF, vascular endothelial growth factor. | ||||||
Flores et al. Critical Care 2008 12:R130 doi:10.1186/cc7098 |
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