Journal article
The skin barrier function gene SPINK5 is associated with challenge-proven IgE-mediated food allergy in infants
SE Ashley, HTT Tan, P Vuillermin, SC Dharmage, MLK Tang, J Koplin, LC Gurrin, A Lowe, C Lodge, AL Ponsonby, J Molloy, P Martin, MC Matheson, R Saffery, KJ Allen, JA Ellis, D Martino
Allergy European Journal of Allergy and Clinical Immunology | WILEY | Published : 2017
DOI: 10.1111/all.13143
Abstract
Background: A defective skin barrier is hypothesized to be an important route of sensitization to dietary antigens and may lead to food allergy in some children. Missense mutations in the serine peptidase inhibitor Kazal type 5 (SPINK5) skin barrier gene have previously been associated with allergic conditions. Objective: To determine whether genetic variants in and around SPINK5 are associated with IgE-mediated food allergy. Method: We genotyped 71 “tag” single nucleotide polymorphisms (tag-SNPs) within a region spanning ~263 kb including SPINK5 (~61 kb) in n=722 (n=367 food-allergic, n=199 food-sensitized-tolerant and n=156 non-food-allergic controls) 12-month-old infants (discovery sample..
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