FLG, filaggrin, 2312

N. diseases: 173; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004096
Disease: Asthma
Asthma
0.200 Biomarker disease HPO
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Filaggrin mutations confer susceptibility to atopic dermatitis but not to asthma. 18073125 2007
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease LHGDN Filaggrin gene mutations are associated with asthma and eczema in later life. 18760831 2008
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Filaggrin (FLG) loss-of-function variants (null-alleles) are associated with eczema and asthma in association with eczema. 19408338 2009
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE FLG mutations are also significantly associated with asthma (OR, 1.48; 95% CI, 1.32-1.66). 19501237 2009
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Filaggrin gene mutations also increased the risk of asthma in people with atopic eczema. 19589816 2009
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Filaggrin gene (FLG) mutations contribute to the development of eczema and asthma, but their contribution to sensitization and hay fever remains unclear. 19839980 2009
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Filaggrin null mutations associate with atopic eczema and also with asthma when present with eczema. 20500796 2010
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE AD, early-onset AD, palmar hyperlinearity, and asthma showed significant associations with the combined FLG null genotype. 27840886 2017
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Additional insights from rare monogenic disorders that can present as severe asthma include recognition that loss-of-function variants in the filaggrin gene known to cause ichthyosis vulgaris are consistently associated with more severe asthma outcomes. 30896504 2019
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Additional insights from rare monogenic disorders that can present as severe asthma include recognition that loss-of-function variants in the filaggrin gene known to cause ichthyosis vulgaris are consistently associated with more severe asthma outcomes. 31090575 2019
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE African-American (AA) children are disproportionately affected with AD, often later developing asthma and/or allergic rhinitis and comprise an atopy health disparity group for which the role of FLG LOF is not well known. 29791750 2018
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE A yet unrecognized class of mid-onset-resolving AD, not associated with FLG mutations, but strongly associated with asthma, was identified. 29129583 2018
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Children with filaggrin variants had a marked and persistent increase in acute severe asthma exacerbations from 1 yr of age (incidence ratio 2.40 [1.19-4.81], p = 0.01) and increased risk of asthma by age 5 (odds ratio 2.62 [1.12-6.11], p = 0.03). 20573035 2010
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Children with nonallergic rhinitis also had increased asthma prevalence (20% vs 5%; P = .001) but showed no association with filaggrin null-mutations, eczema, food sensitization, total IgE, blood eosinophil count, FeNO, or bronchial responsiveness. 20816191 2010
CUI: C0004096
Disease: Asthma
Asthma
0.200 Biomarker disease BEFREE Early data suggest that FLG-associated eczema may be more persistent, more likely to have palmar hyperlinearity, and more likely to be associated with asthma. 17299430 2007
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Early food sensitization and the presence of an FLG mutation in infants with early eczema increase the risk for later asthma, but the combination of the 2 factors does not represent a clinically useful approach to reliably identify children at risk. 22030464 2011
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease LHGDN Filaggrin mutations, atopic eczema, hay fever, and asthma in children. 18396323 2008
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Highly significant association of the filaggrin null mutations with eczema and concomitant asthma was replicated. 17030239 2006
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE However, little is known about the contribution of loss-of-function mutations in the gene encoding filaggrin (FLG) gene, which are considered to be predisposing factors for eczema and asthma, to these associations. 30195067 2018
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE In fact, the exposure to environmental factors during early childhood may induce a long-lasting altered genetic state adapting to a persistent "Th2 state" thus influencing the development of asthma or atopic dermatitis and food allergy if alterations involve the filaggrin gene. 23809342 2013
CUI: C0004096
Disease: Asthma
Asthma
0.200 Biomarker disease BEFREE In the filaggrin-asthma analysis, a direct effect of FLG-LOF mutations was observed on early childhood eczema (age 1 and 2 years) (relative risk (RR) 2.01, 95% CI: 1.74-2.31, P < .001), and all significant indirect pathways on asthma outcomes passed through eczema at these ages. 29266469 2018
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE In the delayed-effects models, 'FLG variants plus allergic sensitization' and 'FLG variants plus eczema' increased the risk of subsequent asthma by 4.93-fold (95% CI 3.61-6.71) and 3.33-fold (95% CI 2.45-4.51), respectively, during the first 18 years of life. 25277085 2014
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE In the Polish patients with AD, the prevalence of FLG mutations was higher in patients with AD than in the controls and 2282del4 FLG mutation was more frequent than R501X, and it was associated with a 6-fold higher risk for AD development (P < 0.001; OR: 5.76), moderate or severe disease course, early onset of asthma and palmar hyperlinearity. 21426411 2011