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Prevalence of Filaggrin Gene R501X Mutation in Indian Children with Allergic Diseases

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A Correction to this article was published on 23 July 2020

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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.

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Change history

  • 23 July 2020

    There is a small oversight in the abstract of the paper.

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Authors and Affiliations

  1. Evidence Based Health Informatics Unit, Regional Resource Centre, Department of Telemedicine, PGIMER, Chandigarh, India

    Anil Chauhan, Amit Agarwal & Meenu Singh

  2. Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India

    Anil Chauhan, Inusha Panigrahi, Manvi Singh, Savita Verma Attri & Meenu Singh

Authors
  1. Anil Chauhan
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  2. Inusha Panigrahi
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  3. Manvi Singh
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  4. Savita Verma Attri
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  5. Amit Agarwal
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  6. Meenu Singh
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Contributions

The concept and idea of the study was conceived by AC and MS. Laboratory work was conducted and supported by AC, IP and SVA. The patients were enrolled by AC, MS and IP. The results analyzed and manuscript was written by AC, Ma S and AA. MS is the guarantor for this paper.

Corresponding author

Correspondence to Meenu Singh.

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Conflict of Interest

None.

Source of Funding

The study was supported by Indian Council of Medical Research, New Delhi through grant no: No 3/1/3/JRF-2010/MOPD-12 (11619).

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Chauhan, A., Panigrahi, I., Singh, M. et al. Prevalence of Filaggrin Gene R501X Mutation in Indian Children with Allergic Diseases. Indian J Pediatr 87, 587–590 (2020). https://doi.org/10.1007/s12098-020-03231-0

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  • DOI: https://doi.org/10.1007/s12098-020-03231-0

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