|
rs61816761
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
|
rs138726443
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis.
|
19874431 |
2010 |
|
rs150597413
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis.
|
19874431 |
2010 |
|
rs138726443
|
|
|
0.040 |
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 |
|
rs61816761
|
|
|
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 |
|
rs138726443
|
|
|
0.040 |
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 |
|
rs61816761
|
|
|
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 |
|
rs61816761
|
|
|
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 |
|
rs145627745
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the AD with FLG gene variants (rs145627745, rs79808464, rs150957860, rs145828067, rs747005144, rs374910442, rs138055273, rs183942200, rs11584340, and rs113136594) reported moderate to severe Scoring Atopic Dermatitis scores.
|
28866311 |
2017 |
|
rs113136594
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the AD with FLG gene variants (rs145627745, rs79808464, rs150957860, rs145828067, rs747005144, rs374910442, rs138055273, rs183942200, rs11584340, and rs113136594) reported moderate to severe Scoring Atopic Dermatitis scores.
|
28866311 |
2017 |
|
rs61816761
|
|
|
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 |
|
rs61816761
|
|
|
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 |
|
rs61816761
|
|
|
0.900 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs558269137
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
|
16444271 |
2006 |
|
rs1443712053
|
|
|
0.010 |
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 |
|
rs560912365
|
|
|
0.010 |
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 |
|
rs748135905
|
|
|
0.010 |
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 |
|
rs146466242
|
|
|
0.020 |
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 |
|
rs180768115
|
|
|
0.010 |
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 |
|
rs761212672
|
|
|
0.010 |
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 |
|
rs61816761
|
|
|
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 |
|
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
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Prevalence of FLG loss-of-function mutations R501X, 2282del4, and R2447X in Spanish children with atopic dermatitis.
|
31637781 |
2020 |
|
rs61816761
|
|
|
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 |