A quality assessment of genetic association studies supporting susceptibility and outcome in acute lung injury

Flores, Carlos; del Mar Pino-Yanes, Maria; Villar, Jesús

doi:10.1186/cc7098

Critical Care

Table 1 Positive genetic association studies with acute lung injury/acute respiratory distress syndrome susceptibility and/or outcome (by year of publication)

From: A quality assessment of genetic association studies supporting susceptibility and outcome in acute lung injury

Gene	Associated variant(s)^a	Sample size (case/control)	Sample size (cohort)	Phenotype(s)	Population	Reference (year)
SFTPB	T/C +1580	52:46		ARDS	European	[21] (2000)
IL-6	G/C -174		96 ARDS	Mortality	European	[22] (2002)
ACE	I/D intron 16	96:2,168		ARDS, mortality	European	[23] (2002)
SFTPB	T/C +1580		402 CAP	ARDS	Multiethnic	[24] (2004)
SFTPB	Intron 4 TR		189 at risk of ARDS	ARDS	Multiethnic	[25] (2004)
PBEF	T/G -1001 and haplotype	87:84		ALI	European	[26] (2005)
MBL2	Haplotypes	569:1,188		SARS	Chinese	[27] (2005)
IL-6	Gene-wide haplotypes		228 SIRS	ALI, need of MV	European	[28] (2005)
IL-6	Haplotype	98:84		ALI	European	[29] (2005)
TNF	G/A -308	212:441		ARDS, mortality	European	[30] (2005)
VEGF	C/T +936	117:240		ARDS, severity	European	[31] (2005)
MYLK	Multiple SNPs and haplotypes	138:146		ALI	Multiethnic	[32] (2006)
IL-10	A/G -1082	211:429		ARDS, severity	European	[33] (2006)
ACE	I/D intron 16	101:348		ARDS mortality	Chinese	[34] (2006)
MIF	Haplotypes	151:173		ALI	Multiethnic	[35] (2007)
PBEF	T/G -1001 and haplotype	375:787		ARDS, mortality	European	[36] (2007)
NRF2	C/A -617		90 major trauma	ALI	Multiethnic	[37] (2007)
CXCL2	-665 TR		183 severe sepsis	ARDS mortality	European	[38] (2007)
MBL2	Gly54Asp	212:442		ARDS, severity	European	[39] (2007)
ACE	I/D intron 16	84:200		ARDS mortality	European	[40] (2007)
NFKBIA	Haplotype	382:828		ARDS	European	[41] (2007)
NFKB1	Ins/del ATTG -94		103 ARDS	Severity	European	[42] (2007)
VEGF	C/T +936 and haplotype		394 ARDS	Mortality	European	[43] (2007)
PLAU	Gene-wide haplotype	175:252		ALI, severity	European	[44] (2008)
MYLK	3 variants and multiple haplotypes		273 major trauma	ALI	Multiethnic	[45] (2008)
MBL2	Haplotypes		848 CAP	ARDS	European	[46] (2008)
IL-6	Gene-wide haplotype	67:96		ALI	European	[47] (2008)
IL-10	A/G -1082		100 severe multiple trauma	ARDS	European	[48] (2008)
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.

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ISSN: 1364-8535

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