Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis

Greisenegger, EK; Novak, Natalija; Maintz, Laura; Bieber, T.; Zimprich, Friedrich; Haubenberger, Dietrich; Gleiß, Andreas; Stingl, Georg; Kopp, Tamara; Zimprich, Alexander

doi:10.1111/j.1468-3083.2009.03469.x

Cited by 49 publications

(62 citation statements)

References 21 publications

(53 reference statements)

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“…However, in our previous study the SCORAD severity index was not statistically different between mutated and non-mutated cases [16]. FLG null mutations predispose to a form of AD that starts in early infancy and persists into adulthood [14,15,17,20,21,22]. In our study, the 5 FLG mutated KC patients had AD starting in early infancy but persisting into adulthood only in 2 patients.…”

Section: Discussionmentioning

confidence: 60%

“…The meta-analysis of 24 studies on FLG mutations has confirmed the association with asthma but only in the context of AD [22]. Some studies have also found significantly higher median serum IgE levels among carriers of FLG mutations [11,17,21]. …”

Section: Introductionmentioning

confidence: 96%

“…Other studies in European Caucasian populations have confirmed this significant genetic predisposing factor to AD [9,11,12,13,14,15,16,17,18,19]. FLG null mutations are an indicator of poor prognosis in AD, predisposing to a form of AD that starts in early infancy and persists into adulthood [14,15,17,20,21,22]. These common mutations are associated with a risk of asthma in the context of AD [12,13,18,21,23].…”

Section: Introductionmentioning

confidence: 97%

“…FLG null mutations are an indicator of poor prognosis in AD, predisposing to a form of AD that starts in early infancy and persists into adulthood [14,15,17,20,21,22]. These common mutations are associated with a risk of asthma in the context of AD [12,13,18,21,23]. The meta-analysis of 24 studies on FLG mutations has confirmed the association with asthma but only in the context of AD [22].…”

Section: Introductionmentioning

confidence: 99%

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A Prospective Study of Filaggrin Null Mutations in Keratoconus Patients with or without Atopic Disorders

Droitcourt¹,

Touboul²,

Ged³

et al. 2011

Dermatology

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Background: Atopic dermatitis (AD) is significantly associated with keratoconus (KC). An inherited component for KC has been suggested. Filaggrin (FLG) mutations are a strong genetic risk factor for AD. Since filaggrin is also expressed in the corneal epithelium, we hypothesized a common aetiology for ichthyosis vulgaris (IV), AD and KC. Objectives: We examined the prevalence of AD and IV in a KC population. We also studied the expression of filaggrin in normal and KC cornea and analysed 2 prevalent loss-of-function FLG alleles (R501X and 2282del4) in a KC population. Finally we examined whether the population with KC and FLG mutations had specific clinical characteristics. Results: Of 89 KC patients, 38 had current or a history of AD and/or IV. Five patients were carriers of at least 1 FLG mutant allele and had a clinical diagnosis of AD and IV with a severer KC. Conclusion: The low frequency of FLG mutations is surprising since 42.7% of our KC population had AD associated or not with IV; the expected frequency would have been 12–15%, based on our previous studies. Further studies are required to look at other possible FLG mutations or other candidate genes.

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Section: Discussionmentioning

confidence: 60%

Section: Introductionmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

A Prospective Study of Filaggrin Null Mutations in Keratoconus Patients with or without Atopic Disorders

Droitcourt¹,

Touboul²,

Ged³

et al. 2011

Dermatology

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show abstract

“…Greisenegger et al studied the four FLG variants R501X , 2282del4 , R2447X , and S3247X in 462 Austrian and German adult AD patients and 402 control individuals [ 30 ]. Mutation carrier status of the combined genotype was not signifi cantly different in patients with asthma compared to patients without asthma (26 % vs. 22 %), OR = 1.27 (0.79-2.05).…”

Section: Other Risk Allelesmentioning

confidence: 97%