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Gene Defect May Identify Allergies and Eczema Earlier

Gene Defect May Identify Allergies and Eczema Earlier

EARLY identification of babies at risk of asthma, wheeze, and nasal blockage may now be possible due to the discovery of a link to a gene defect. Patterns of allergic disease were compared to genotyping undertaken in >2,000 babies in the GO-CHILD study, to assess the association of this gene defect with eczema and allergy.

Filaggrin is a protein present in skin and the nasal cavity which helps maintain the skin barrier. Previous studies have identified gene defects affecting the synthesis of filaggrin which are strongly linked to both the development of eczema and the severity of eczema and asthma in those affected. The GO-CHILD study recruited 2,312 pregnant mothers, using cord blood or saliva sampling to genotype newborns, and followed the babies >2 years-old to assess their development of allergic diseases.

Findings from the study mapped variations in expression of eczema, wheeze, and nasal blockage across different ages and compared these to filaggrin gene defects. The gene defect was associated with worsening of eczema, wheeze, and nasal blockage at 6 months, but only of eczema at 1 year, and eczema and nasal blockage at 2 years.

Other factors also affect allergic disease; however, Prof Somnath Mukhopadhyay, Chair of Paediatrics at Brighton and Sussex Medical School (BSMS), Brighton, UK, highlighted the potential impact these findings have on clinical understanding: “Our striking finding establishing this link could mean that some babies with these gene defects could be getting primed from birth or soon after, for a life of suffering from allergy-related disease.”

Early identification of those children at risk may help provide early intervention, reduce the impacts of disease, and avoid progression to more severe disease. “The use of simple emollients from birth targeted towards those who have these gene defects may help correct this problem, thus alleviating suffering in infancy and also through life,” reported Prof Mukhopadhyay. Incorporating genetic information into tailored care for patients is known as personalised or precision medicine, and adopting this approach early in life may lead to the best lifelong outcomes for affected children.