Article
Genetic variants in RORA are associated with asthma and allergy markers in an admixed population
Registro en:
LIMA, Louise Correia et al. Genetic variants in RORA are associated with asthma and allergy markers in an admixed population. Cytokine, v. 113, p. 177-184, 2019.
1043-4666
10.1016/j.cyto.2018.07.004
Autor
Lima, Louise Correia
Queiroz, Gerson de Almeida
Costa, Ryan dos Santos
Neves, Neuza Maria Alcantara
Marques, Cíntia Rodrigues
Costa, Gustavo Nunes de Oliveira
Barreto, Maurício Lima
Figueiredo, Camila Alexandrina Viana
Carneiro, Valdirene Leão
Resumen
Barreto, Mauricio Lima. Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”. O artigo encontra-se disponível em acesso aberto para download no site do Editor. CNPq National Research Council - Brazil and FAPESB State of Bahia, Brazil Research Council. Asthma and allergy affect hundreds of millions of people from childhood to old age. In most of them, the
inflammatory process of respiratory allergies involves the participation of type 2 cytokines, derived from T
helper-2 (Th2)-cell, and Group 2 Innate Lymphoid (ILC2) Cells. An efficient memory Th2 cell response is dependent
on IL-13 produced by ILC2s, causing allergic lung inflammation and elevated serum levels of immunoglobulin
E. ILC2 cells are derived from common lymphoid progenitors and their growing depends on the
transcription factor RORA. The aim of this work was to identify genetic variants in RORA associated with asthma
phenotypes and allergy markers. Genomic DNA samples of 1246 individuals participating from Social Changes
Asthma and Allergy in Latin America Program (SCAALA) have been genotyped using Illumina Human 2.5 Omni
Beadchip. Logistics regressions have been performed to analyze the association among RORA variants and
asthma, skin prick tests (SPT), specific IgE and type 2 cytokine production. Twelve single nucleotide variants
(SNVs) were significantly associated with atopy (P < 0.01), in which four of them, rs10162630, rs17191519,
rs17270243, and rs55796775 and their haplotypes were strongly and positively associated (P < 0.001).
Furthermore, these variants increased the RORA gene expression in silico analysis. Other SNVs in RORA were
associated with allergy markers, atopic and non-atopic asthma. Therefore, it is believed that variants in RORA
gene may influence immunologic features of asthma and allergies and could be possible targets for future
treatment of allergic diseases.