Cystic Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The structural and promoter (-221x/y) variants of MBL2, variants at codons 19, 50, 62, and 219 of SFTPA1, and at codons 9, 91, and 223 for SFTPA2, were studied in 135 adults with CF and compared to their forced expired volume in 1 sec (FEV1), diffusion of CO (DLCO), and other pulmonary scores.
|
16429424 |
2006 |
Cystic Fibrosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mannan-binding lectin (MBL) deficiency has been reported to be associated with poor outcome in CF lung disease.
|
15654829 |
2005 |
Cystic Fibrosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
The role of the MBL2 gene in lung disease severity in CF patients represents a very complex phenomenon where both genetic and environmental factors play an important role in addition to that of the MBL2 gene.
|
22131319 |
2011 |
Cystic Fibrosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
These data highlight the crucial role of mannose binding lectin in the clinical outcome of cystic fibrosis, as it has recently been shown that the mannose binding lectin gene is a modulating gene of the respiratory involvement in cystic fibrosis patients.
|
11333866 |
2001 |
Cystic Fibrosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
We performed MBL2 genotyping in 47 CF patients-cared of at the regional CF Centre of Trieste-trying to establish a correlation within allelic variants of MBL2 and modification of patients' clinical outcome.
|
16046196 |
2005 |
Cystic Fibrosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mannose-binding lectin (MBL) plays an important role in innate immunity and has been reported to be associated with the age-related decline in lung function in cystic fibrosis.
|
24753481 |
2015 |
Cystic Fibrosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
We therefore evaluated the association of MBL2 with CF pulmonary phenotype in a cohort of 1,019 Canadian pediatric CF patients.
|
18292811 |
2008 |
Cystic Fibrosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
The role of MBL in human pulmonary disease is less well established, although accumulating evidence suggests that it is a modifier for lung disease in tuberculosis and cystic fibrosis.
|
16263483 |
2001 |
Cystic Fibrosis
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Low serum MBL levels were shown to be associated with serious infectious complications, mainly in patients in whom other non-specific immune system barriers were disturbed (granulocytopenia, cystic fibrosis).
|
18637104 |
2008 |
Cystic Fibrosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
MBL insufficiency is linked to an increased risk of lung infection and to declines in lung function in patients with cystic fibrosis.
|
31012247 |
2019 |
Cystic Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
When we used the dominant model, the MBL2 allele rs11003125 (MBL2-550; p = 0.022, Odds Ratio (OR) 2.87, 95% CI 1.14-7.27) was significantly associated with CF patients as risk factor, and the ADRB2 allele rs1042713 (p.Arg16Gly; p = 0.005, Odds Ratio (OR) 0.37, 95% CI 0.19-0.75) was significantly associated with CF patients as protect factor.
|
29703608 |
2018 |
Cystic Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
MBL2 variants were studied in 106 Argentinean pediatric CF patients carrying two severe CFTR mutations.
|
25178872 |
2015 |
Cystic Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Thus, use of a modeling framework that identified confounding among disease variables revealed that variation in MBL2 associates with age at infection with Pa and age at conversion to mucoid Pa in CF.
|
20068595 |
2010 |
Cystic Fibrosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Moreover, purified mannose-binding lectin can safely be administered to chronically ill patients, and may be a potential treatment in CF and other diseases in which mannose-binding lectin deficiency plays a pathophysiological role.
|
11836800 |
2002 |
Cystic Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Impaired pulmonary status in cystic fibrosis adults with two mutated MBL-2 alleles.
|
15516675 |
2004 |
Cystic Fibrosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Differential binding of mannose-binding lectin to respiratory pathogens in cystic fibrosis.
|
10866448 |
2000 |
Cystic Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In another multicenter study mutations in alpha-1 antitrypsin (A1AT) and mannose binding lectin genes were found to be independent risk factors for liver disease in CF patients.
|
12124743 |
2002 |
Cystic Fibrosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Moreover, MBL appears to have a significant influence on the course of certain chronic diseases like rheumatoid arthritis and cystic fibrosis.
|
12473150 |
2002 |
Cystic Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
TNFalpha-238 G/A and MBL2 O/O genotypes appear to be genetic modifiers of survival of cystic fibrosis.
|
17158822 |
2007 |
Cystic Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Presence of MBL variant alleles is therefore associated with poor prognosis and early death in patients with CF.
|
10449435 |
1999 |
Cystic Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The MBL2 gene polymorphisms were not associated with disease severity in the CF patients.
|
19466271 |
2009 |
Cystic Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Concentrations and genotypes of MASP-2 and MBL in 109 CF patients were correlated to lung function and chronic infections.
|
17045845 |
2006 |
Cystic Fibrosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
MBL has been proposed as a possible modulator of clinical severity in CF.
|
21045008 |
2011 |
Cystic Fibrosis
|
0.200 |
SusceptibilityMutation
|
disease |
CLINVAR |
|
|
|