Asthma and allergic rhinitis associate with the rs2229542 variant that induces a p.Lys90Glu mutation and compromises AKR1B1 protein levels

Elena García-Martín, Francisco J. Sánchez-Gómez, Gemma Amo, Jesús García Menaya, Concepción Cordobés, Pedro Ayuso, M. Carmen Plaza Serón, Miguel Blanca, Paloma Campo, Gara Esguevillas, María A. Pajares, José A. G. Agúndez, Dolores Pérez-Sala
  • Human Mutation, May 2018, Wiley
  • DOI: 10.1002/humu.23548

What is it about?

Patients with asthma and allergic rhinitis often present with the K90E mutation in the AKR1B1 gene. The incidence of the K90E mutation in a population with asthma and allergic rhinitis was analyzed, along with the impact of this amino acid substitution on the protein function.

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The following have contributed to this page: Dr María A Pajares