|
rs61816761
|
|
|
0.800 |
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 |
|
rs61816761
|
|
|
0.800 |
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 |
|
rs61816761
|
|
|
0.800 |
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 |
|
rs61816761
|
|
|
0.800 |
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 |
|
rs61816761
|
|
|
0.800 |
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 |
|
rs61816761
|
|
|
0.800 |
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 |
|
rs61816761
|
|
|
0.800 |
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 |
|
rs61816761
|
|
|
0.800 |
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 |
|
rs61816761
|
|
|
0.800 |
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 |
|
rs61816761
|
|
|
0.800 |
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 |
|
rs61816761
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Our results support an important role for the filaggrin gene variants R501X and 2282del4 in the development and severity of atopic eczema and indicate a possible role for the subsequent progression into eczema-associated phenotypes.
|
18176743 |
2008 |
|
rs61816761
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Mutations in FLG/(R501X and 2282del4) are reported to be strongly associated with AD and to influence asthma accompanying AD.
|
17301831 |
2007 |
|
rs61816761
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
|
16550169 |
2006 |
|
rs61816761
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
|
16444271 |
2006 |
|
rs61816761
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
We evaluated the association of the loss-of-function mutations R501X and 2282del4 within the FLG gene in a large collection of 476 well-characterized white German families with AD by using the transmission-disequilibrium test.
|
16815158 |
2006 |
|
rs61816761
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.
|
17030239 |
2006 |
|
rs61816761
|
|
|
0.800 |
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 |
|
rs11584340
|
|
|
0.040 |
GeneticVariation |
BEFREE |
After stratifying by phthalate metabolite levels, FLG P478S TT genotype was related to a higher odds of AD in children with high MBP levels (aOR=4.74, 95% CI 1.45-15.5) and in children with high MBzP levels (aOR=3.46, 95%CI 1.03-11.58).
|
25460639 |
2015 |
|
rs11584340
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To investigate the effects of filaggrin (FLG) P478S polymorphisms and environmental factors on the risk of asthma in a cohort of children with atopic dermatitis (AD).
|
25528737 |
2015 |
|
rs11584340
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The results of the present study suggest that the FLG P478S polymorphism alone and combined with other factors influences FFA levels and increases the susceptibility to AD.
|
24521637 |
2013 |
|
rs11584340
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Our results suggest that the FLG P478S polymorphism may confer susceptibility to the development of AD among Chinese individuals and may be modified by IgE levels.
|
21219289 |
2011 |
|
rs138726443
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Prevalence of FLG loss-of-function mutations R501X, 2282del4, and R2447X in Spanish children with atopic dermatitis.
|
31637781 |
2020 |
|
rs138726443
|
|
|
0.030 |
GeneticVariation |
BEFREE |
FLG mutations (R501X, 2282del4, and R2447X) were identified in 16.9% of patients, and were significantly associated not only with atopic dermatitis, but also independently with skin fissures on the fingers and heels, and self-reported actinic keratosis.
|
27995642 |
2017 |
|
rs146466242
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The most commonly detected mutations in Korean patients with AD were 3321delA (n=6, 9.1%) and K4022X (n=3, 4.5%).
|
28120571 |
2017 |
|
rs146466242
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Molecular analysis of the FLG gene in this study showed nine null and one unclassified mutation in 13 of 81 Korean patients with atopic dermatitis (AD): five novel null mutations (i.e. p.S1405*, c.5671_5672delinsTA, p.W1947*, p.G2025* and p.E3070*); four reported null mutations (i.e. c.3321delA, p.S1515*, p.S3296* and p.K4022*); and one unclassified mutation (i.e. c.306delAAAGCACAG).
|
25997159 |
2015 |