17q21 variant increases the risk of exacerbations in asthmatic children despite inhaled corticosteroids use

Advances and recent developments in asthma in 2020

“…14 The authors also observed that the SNP rs7216389 frequency was higher in East Asians, African Americans, and Hispanics, compared to patients of European ancestry. 14 Interestingly, an interaction between 17q21 variants and breastfeeding in relation to respiratory symptoms in the first year of life was observed by Gorlanova et al suggesting a protective effect of breastfeeding on asthma inception linked to early-life respiratory infections in babies carrying the risk alleles. Specifically, when infants were stratified by breastfeeding status, carriers of asthma risk alleles showed a protective effect of breastfeeding on respiratory symptoms during the weeks when they were breastfed, while they showed an increased risk of respiratory symptoms during the weeks when they were not breastfed.…”

“…In particular, childhood asthma is strongly associated with the 17q21 locus alleles. Analyzing 14 different populations of asthmatic patients from 12 different countries, Farzan et al showed that 17q21 polymorphism is related to an increased risk of exacerbations in children with asthma despite ICS use 14 . The authors also observed that the SNP rs7216389 frequency was higher in East Asians, African Americans, and Hispanics, compared to patients of European ancestry 14 .…”

“…Analyzing 14 different populations of asthmatic patients from 12 different countries, Farzan et al showed that 17q21 polymorphism is related to an increased risk of exacerbations in children with asthma despite ICS use 14 . The authors also observed that the SNP rs7216389 frequency was higher in East Asians, African Americans, and Hispanics, compared to patients of European ancestry 14 . Interestingly, an interaction between 17q21 variants and breastfeeding in relation to respiratory symptoms in the first year of life was observed by Gorlanova et al suggesting a protective effect of breastfeeding on asthma inception linked to early‐life respiratory infections in babies carrying the risk alleles.…”

The Effects of the Environment on Asthma Disease Activity

“…Despite the progress in genetic research, our understanding is still limited as these genetic factors explain small proportion of total phenotypic variability, and the functional relationships between epigenetic processes, environmental stimuli and developmental programs 75 . Farzan et al examined the association of the rs7216389 (17q21 single SNP) with health care utilization and oral steroid bursts -from the Pharmacogenetics in Childhood Asthma consortium 76 . The rs7216389 SNP was significantly associated with asthma emergency room visits and admissions and use of oral steroid bursts.…”

Highlights and recent developments in airway diseases in EAACI journals (2018)

“…A meta-analysis of 13 multiethnic studies from the Pharmacogenomics in Childhood Asthma indicated that rs7216389 polymorphism at the locus 17q21 is associated with a higher risk of exacerbations in asthmatic children, even when using oral corticosteroids. 27 Children carrying interferon regulating factor (IRF-1) polymorphisms, rs2706384, rs2070721, and rs10035166, resulted in the upregulation of pro-inflammatory genes and were at a higher risk of developing allergic asthma. 28 Genetic mutations in the SPINK5 gene, which encodes a serine peptidase inhibitor Kazal-type 5 essential for skin regeneration, were challenge-proven to be associated with IgE-mediated food allergy in children.…”