Mutations of filament‑aggregating protein gene in Romanian children diagnosed with atopic dermatitis

Abstract

Association of atopic dermatitis (AD) and several mutations of various genes of the immune system, in particular filament-aggregating protein gene (FLG) has been investigated in many studies. The association between defective FLG and AD in the Romanian population has not been assessed or published. The present study focused on the genetic background of AD, aiming to assess the prevalence of FLG mutations in Romanian patients with AD. Genetic background of AD was tested for common FLG-mutations: R501X, 2282del4, S3247X and R2447X. The study involved 48 Romanian Caucasian children aged between two months and six years diagnosed with AD, and 48 healthy volunteers; DNA extraction involved 50% of the patients to give samples by using buccal swabs and 50% by collection of whole blood samples. Genetic predisposition was evaluated based on family history, atopy history and profilaggrin genotyping. DNA extracted from blood samples was adequate to study FLG mutations, although no mutation was identified. Genetic factors do not have a unique critical role in AD; therefore, environmental factors unquestionably play an important role in this disease, but the clear-cut part that these factors trigger toward increasing the risk of AD in childhood is still obscure.

Increased loss‐of‐function filaggrin gene mutation prevalence in atopic dermatitis patients across northern latitudes indicates genetic fitness: A systematic review and meta‐analysis

“…Among all studies that provided prevalence data, the FLG was so far not fully sequenced in exon 3 or the entire FLG in populations originating in Australia, Canada, Chile, Croatia, Denmark, France, Hungary, Mexico, Norway, Poland, Russia, Slovenia, Spain, Switzerland, Tunisia, Turkey and Ukraine (shown in Table S15 and Figure S9). Scandinavian 62–67 distributions of the three most frequent LoF FLG mutation types were similar to Western Europeans 68–79 and Eastern Europeans, 80–90 whereas UK 9,91–97 mutations were distributed similar to Southern Europeans 23,98–105 . A unique mutation was identified on the Asian continent, 106,107 and another mutation is specific to Japan 106 .…”

Trajectory and determinants of agreement between parental and physicians' reports of childhood atopic dermatitis

“…Time‐fixed factors included child sex, maternal education at baseline (high: duration of school education >11 years vs. low: ≤11 years), maternal nationality at baseline (German vs. others), maternal smoking in the year before pregnancy (yes vs. no), any parental atopic disease (yes vs. no), and child filaggrin gene mutations (yes vs. no). According to previous literature, 17,18 we considered having any one of the R501X, 2282del4, R2447X, and S3247X filaggrin gene mutations associated with developing AD. Time‐varying child‐related factors in the last 12 months at each follow‐up included other atopic disease diagnoses (yes vs. no based on questions about hay fever, asthma, urticaria, food allergies or other allergies) and frequency of parent‐reported fever episodes (<2 vs. ≥2).…”

“…Time-fixed factors included child sex, maternal education at baseline (high: duration of school education >11 years vs. low: ≤11 years), maternal nationality at baseline (German vs. others), maternal smoking in the year before pregnancy (yes vs. no), any parental atopic disease (yes vs. no), and child filaggrin gene mutations (yes vs. no). According to previous literature, 17,18 we considered having any one of the R501X, 2282del4, R2447X, and S3247X filaggrin…”