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 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 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 Mutations in the filaggrin gene (FLG) confer major susceptibility to eczema and related asthma. 18325573 2008
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE The FLG null mutation genotype was significantly associated with a higher prevalence of asthma and decreased FEV(1)/forced vital capacity ratio. 22088612 2012
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE It has been conceived that genetic susceptibility to atopy determines the phenotype of allergic diseases progressive from the skin to the airways, but recent discovery of filaggrin gene mutations that disturb the barrier function of the skin in patients with asthma and eczema now suggests the crucial role of epicutaneous sensitization as a precursory event for the development of asthma. 21252616 2011
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 The FLG null variants were associated with AD (OR = 2.01, CI: 1.20-3.36, P = 0.007), allergic rhinitis (in particular persistent form, OR = 1.69, CI:1.12-2.54, P = 0.011), and asthma (in particular atopic asthma, OR = 2.22, CI:1.24-3.96, P = 0.006). 21365004 2011
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE It is unknown whether carriers of loss-of-function mutations in the gene encoding filaggrin (FLG), a known risk gene for eczema and asthma, are at increased risk. 26451970 2016
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE The associations between FLG mutations and atopic sensitization, rhinitis and asthma are weaker than between FLG mutations and eczema, especially if those who also have eczema are excluded. 20649899 2010
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE The association studies discussed herein addressed 3 main topics: the effect of the environment and gene-environment interactions on asthma/allergy susceptibility, the contribution of T(H)2 immunity gene variants to allergic inflammation, and the role of filaggrin mutations in atopic dermatitis and associated phenotypes. 18619666 2008
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Xerosis is associated with asthma in men independent of atopic dermatitis and filaggrin gene mutations. 25712346 2015
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 Two common loss-of-function mutations in the FLG gene encoding filaggrin (an important component of terminal keratinocyte differentiation) are strongly associated with the development of atopic dermatitis and asthma associated with atopic dermatitis. 17224668 2007
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Loss-of-function mutations in the filaggrin gene (FLG) were identified as risk factors for eczema and associated asthma. 19348926 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 The filaggrin mutations were significantly associated with greater disease severity for asthma. 17531295 2007
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 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 The identification of mutations in the barrier protein filaggrin as conferring major susceptibility to atopic dermatitis and atopic dermatitis related asthma has reconfigured our understanding of disease mechanisms and highlights the importance of epidermal barrier disruption as a primary event in the disease. 18769192 2008
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Mite sensitizations and FLG variants had a synergistic effect on the development of asthma. 25528737 2015
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 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 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 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