|
Eczema
|
|
0.900 |
GeneticVariation
|
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Eczema
|
|
0.900 |
GeneticVariation
|
BEFREE |
Two novel FLG LOF singletons, c.488delG and p.S3101*, were discovered as well as p.R501*, p.R826* and p.S3316* previously reported for AD. p.S3316* (rs149484917) is likely an African ancestral FLG LOF, reported in African individuals in ExAC (Exome Aggregation Consortium), Exome Variant Server (ESP), and 4 African 1000G population databases (ESN, MSL, ASW, and ACB).
|
29791750 |
2018 |
|
Eczema
|
|
0.900 |
GeneticVariation
|
BEFREE |
In a sample of Turkish children, FLG R501X genotyping revealed no risk alleles in variable severities of AD or healthy controls.
|
22989708 |
2013 |
|
Eczema
|
|
0.900 |
GeneticVariation
|
BEFREE |
We evaluated a multiyear prospective cohort study of children with AD with respect to FLG null mutations (R501X, 2282del4, R2447X, and S3247X).
|
22951058 |
2012 |
|
Eczema
|
|
0.900 |
GeneticVariation
|
BEFREE |
In total, 3202 adults aged 18-69 years were patch tested, filaggrin genotyped for 2282del4 and R501X and questioned about AD.
|
22283138 |
2012 |
|
Eczema
|
|
0.900 |
GeneticVariation
|
BEFREE |
The R501X and/or 2282del4 filaggrin null mutations were present in 26 (15%) of children with atopic dermatitis and were primarily associated with predilection to exposed skin areas (especially the cheeks and back of the hands) and an up-regulation of both acute and chronic dermatitis.
|
23166590 |
2012 |
|
Eczema
|
|
0.900 |
GeneticVariation
|
BEFREE |
In a Polish population FLG 2282del4 and R501X carriage increases risk for development of AD and atopic asthma (also in the absence of AD or history thereof).
|
21365004 |
2011 |
|
Eczema
|
|
0.900 |
GeneticVariation
|
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 |
|
Eczema
|
|
0.900 |
GeneticVariation
|
BEFREE |
We genotyped single nucleotide polymorphisms (SNPs): -105/rs28665122 in SELS or SEPS1 (selenoprotein), three single nucleotide polymorphisms in IL18 (-105/rs360717, +183/rs5744292 and +1467/rs574456) and R501X/rs61816761 in FLG, the major locus associated with atopic dermatitis and predisposing to asthma, in a minimum of 6743 T1D cases and 7864 controls.
|
22069270 |
2011 |
|
Eczema
|
|
0.900 |
GeneticVariation
|
BEFREE |
The R501X mutation in the gene encoding filaggrin, one of the strongest genetic predictors of AD, confers an even greater risk for ADEH in both European and African ancestry populations, suggesting a role for defective skin barrier in this devastating condition.
|
19733298 |
2009 |
|
Eczema
|
|
0.900 |
GeneticVariation
|
BEFREE |
FLG mutations R501X, 2282del4 and R2447X were genotyped in the Prevention and Incidence of Asthma and Mite Allergy birth cohort (n = 934) to evaluate longitudinally, for up to 8 years, their association with eczema, sensitization, asthma, hay fever and their interaction with cat exposure.
|
19839980 |
2009 |
|
Eczema
|
|
0.900 |
GeneticVariation
|
BEFREE |
We found a highly significant association of the FLG null variants R501X- and 2282del4 with AD (combined genotype p < 0.0001) and asthma (combined genotype p < 0.0001).
|
19538357 |
2009 |
|
Eczema
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recent studies have identified 2 loss-of-function variants, R501X and 2282del4, in the filaggrin gene as predisposing factors in the development of eczema.
|
18176743 |
2008 |
|
Eczema
|
|
0.900 |
GeneticVariation
|
BEFREE |
Mutations in FLG/(R501X and 2282del4) are reported to be strongly associated with AD and to influence asthma accompanying AD.
|
17301831 |
2007 |
|
Eczema
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recently, 2 loss-of-function mutations (R501X and 2282derl4) in the filaggrin gene (FLG) that cause ichthyosis vulgaris, one of the most common inherited skin disorders of keratinization, have been reported to be strong predisposing factors for AD.
|
16815158 |
2006 |
|
Eczema
|
|
0.900 |
CausalMutation
|
CLINVAR |
|
|
|