Prevalence of Filaggrin Gene R501X Mutation in Indian Children with Allergic Diseases
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ORIGINAL ARTICLE
Prevalence of Filaggrin Gene R501X Mutation in Indian Children with Allergic Diseases Anil Chauhan 1,2 & Inusha Panigrahi 2 & Manvi Singh 2 & Savita Verma Attri 2 & Amit Agarwal 1 & Meenu Singh 1,2 Received: 1 April 2019 / Accepted: 30 January 2020 # Dr. K C Chaudhuri Foundation 2020
Abstract Objective To determine the prevalence of R501X mutation of Filaggrin gene in children with allergic diseases. Methods Ninety patients recruited from Allergy and Asthma clinic of Advanced Pediatric Centre, PGIMER, Chandigarh and 81 healthy controls from local schools matched for age, gender and BMI were enroled in the present study. The R501X mutation analysis was done by PCR-RFLP method. Results Out of the 90 enroled allergic children, 5 (5.5%) were mutant (AA) for R501X genotype, 44 (43.3%) had (AA+Aa) genotype and 46 (51.1%) had (aa) genotype. However, in the control group there were no mutant (AA) for R501X, 36 (44.4%) had (AA+Aa) genotype and 45 had wild type homozygous (aa) genotype. There were 3.3% and 2.2% children with asthma and asthma concomitantly with eczema having mutant R501X genotype. Conclusions In the present study, the prevalence of Filaggrin mutant genotype (R501X) was detected in approximately 5.5% of children with allergic diseases. Keywords Asthma . Allergic diseases . Filaggrin . Heterozygous . Homozygous . Mutant . Genotype
Introduction Filaggrin (filament-aggregating protein) (FLG) is a protein present in epidermis and acts as cutaneous barrier for several antigens by aggregating the keratin filaments and balancing the pH of the epidermis [1]. Mostly the expression of FLG occurs in epidermis, but it is also expressed in nasal and mucosal epithelium. The FLG gene is encoded by chromosome 1q21 within the epidermal differentiation complex [1]. The association of FLG mutations with the development of allergic diseases has been reported and confirmed by several studies worldwide [2]. There are most commonly two mutations (R501X and 2282del4) being reported from European population [3]. There are 7–10% of individuals carrying more than one FLG mutation in European population [4]. The recent singular study from Indian population has reported 33.7% of
prevalence of Filaggrin mutations with hand eczema [5]. There is also an association of increased asthma risk with FLG mutation in the Avon longitudinal Study of Parents and Children study (ALSPACs) and International Study on Allergy and Asthma in Childhood (ISAAC) [6–8]. In a meta-analysis, there was significant association of FLG mutations with the development of asthma [OR, 1.48; 95% CI, 1.32–1.66] [9]. The systemic allergies resulted through FLG mutations is described by its transcutaneous sensitization but not through bronchial mucosa [10]. This implicates the role of FLG in the development of systemic atopic response linking eczema to systemic allergies [10]. The knock down studies on Filaggrin shows increased keratinocytes sensitivity towards ultra violet radiation [UV (B)] [11]. However, their relationship has not been studied in Indi
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