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 GWASCAT Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis. 31619474 2019
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 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 GWASCAT Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies. 31036433 2019
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease GWASCAT Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study. 30552067 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 We then tested the impact of the choice of the most common definitions of 'cases' and 'controls' on AD prevalence estimates and associated risk factors (including filaggrin mutations) among children aged 5 years in two population-based birth cohorts: the Manchester Asthma and Allergy Study (MAAS) and Asthma in Ashford. 30822368 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 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 To determine whether FLG mutations are associated with increased prescribing for eczema and asthma and whether increased prescribing is associated with increased healthcare costs. 29851030 2018
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 Biomarker disease BEFREE These results underline the role of the epidermal barrier and filaggrin insufficiency in the pathogenesis of atopic eczema and eczema-associated asthma. 29068602 2017
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 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 This study was designed to examine the association between loss-of-function mutations in the filaggrin gene (FLG) and atopic dermatitis (AD) and asthma in adult twins. 27653621 2016
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 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 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 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 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 These SNPs (rs11204971, rs3126085, rs7936562, rs712484 and rs6010620) at AD susceptibility genes/loci FLG, 11q13.5 and 20q13.33 were not associated with asthma in this study. 22545103 2012
CUI: C0004096
Disease: Asthma
Asthma
0.200 Biomarker disease BEFREE Three study populations were included: (i) a random sample of 3335 subjects aged 18-69 years from the general population in Copenhagen who underwent general health examination; (ii) a total of 499 patients seen in our dermatitis clinic since 2009 and who were filaggrin genotyped as a part of the routine diagnostic work up; and (iii) a prospective, longitudinal, birth cohort study of 411 children born to mothers with a history of asthma. 21501248 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 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