Title
Suggestive association between variants in IL1RAPL and asthma symptoms in Latin American children
Date Issued
01 April 2017
Access level
open access
Resource Type
journal article
Author(s)
Marques C.R.
Costa G.N.O.
Da Silva T.M.
Oliveira P.
Cruz A.A.
Alcantara-Neves N.M.
Fiaccone R.L.
Horta B.L.
Hartwig F.P.
Burchard E.G.
Pino-Yanes M.
Rodrigues L.C.
Lima-Costa M.F.
Pereira A.C.
Gouveia M.H.
Sant Anna H.P.
Lima Barreto M.
Figueiredo C.A.
Universidad Federal de Minas Gerais
Publisher(s)
Nature Publishing Group
Abstract
Several genome-wide association studies have been conducted to investigate the influence of genetic polymorphisms in the development of allergic diseases, but few of them have included the X chromosome. The aim of present study was to perform an X chromosome-wide association study (X-WAS) for asthma symptoms. The study included 1307 children of which 294 were asthma cases. DNA was genotyped using 2.5 HumanOmni Beadchip from Illumina. Statistical analyses were performed in PLINK 1.9, MACH 1.0 and Minimac2. The variant rs12007907 (g.29483892C>A) in IL1RAPL gene was suggestively associated with asthma symptoms in discovery set (odds ratio (OR)=0.49, 95% confidence interval (CI): 0.37-0.67; P=3.33 × 10 - 6). This result was replicated in the ProAr cohort in men only (OR=0.45, 95% CI: 0.21-0.95; P=0.038). Furthermore, investigating the functional role of the rs12007907 on the production a Th2-type cytokine, IL-13, we found a negative association between the minor allele A with IL-13 production in the discovery set (P=0.044). Gene-based analysis revealed that NUDT10 was the most consistently associated with asthma symptoms in discovery sample. In conclusion, the rs12007907 variant in IL1RAPL gene was negatively associated with asthma and IL-13 production in our study and a sex-specific association was observed in one of the validation samples. It suggests an effect on asthma susceptibility and may explain differences in severe asthma frequency between women and men.
Start page
439
End page
445
Volume
25
Issue
4
Language
English
OCDE Knowledge area
Genética humana Sistema respiratorio Genética, Herencia
Scopus EID
2-s2.0-85010876681
PubMed ID
Source
European Journal of Human Genetics
ISSN of the container
10184813
Source funding
Ministerio de Sanidad, Consumo y Bienestar Social
Sponsor(s)
FNDCT Financiamiento de Estudios y Proyectos Ministerio de Sanidad, Consumo y Bienestar Social Consejo de Investigación Médica Departamento de Ciencia y Tecnología, Ministerio de Ciencia y Tecnología, India Ministerio de Ciencia y Tecnología, Taiwán Fundación para el Desarrollo Científico y Tecnológico en Salud
Sources of information: Directorio de Producción Científica Scopus