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Eur J Hum Genet. 2017 Apr;25(4):439-445. doi: 10.1038/ejhg.2016.197. Epub 2017 Jan 25.

Suggestive association between variants in IL1RAPL and asthma symptoms in Latin American children.

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Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, Brazil.
Instituto de Saúde Coletiva, Universidade Federal da Bahia, Salvador, Brazil.
Departamento de Ciências Biológicas, Universidade Estadual do Sudoeste da Bahia, Jequié, Brazil.
Centro de Pesquisas Gonçalo Muniz, FIOCRUZ, Salvador, Brazil.
School of Medicine, ProAR-Center of Excellence in Asthma, Federal University of Bahia School of Medicine, Salvador, Brazil.
Departamento de Estatística, Instituto de Matemática, Universidade Federal da Bahia, SalvadorBrazil.
Departamento de Medicina Social, Programa de Pós-Graduação em Epidemiologia, Universidade Federal de Pelotas, Pelotas, Brazil.
Department of Medicine, University of California, San Francisco, CA, USA.
Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA, USA.
Department of Medicine, Hospital Universitario N.S. de Candelaria, Tenerife, Spain.
Department of Medicine, University of California, San Francisco (UCSF), CA, USA.
Department of Infectious Disease Epidemiology, Faculty of Epidemiology, London School of Hygiene and Tropical Medicine.
Instituto de Pesquisa Rene Rachou, Fundação Oswaldo Cruz. Av. Augusto de Lima, Belo Horizonte, Minas Gerais, Brazil.
Faculdade de Medicina, Instituto do Coração, Universidade de São Paulo, São Paulo, Brazil.
Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.


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.

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