TY - JOUR T1 - LATE-BREAKING ABSTRACT: X chromosome-wide association study revels a member of the IL1R's family associated with asthma JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.congress-2015.OA1454 VL - 46 IS - suppl 59 SP - OA1454 AU - Cintia Rodrigues Marques AU - Gustavo Nunes de Oliveira Costa AU - Thiago Magalhães da Silva AU - Pablo Oliveira AU - Álvaro Augusto Souza da Cruz Filho AU - Fernando Pires Hartwig AU - Bernardo Bernardo Horta AU - Esteban Burchard AU - Maria Pino-Yanes AU - Neuza Maria Alcantara-Neves AU - Maurício Lima Barreto AU - Camila Alexandrina Figueiredo Y1 - 2015/09/01 UR - http://erj.ersjournals.com/content/46/suppl_59/OA1454.abstract N2 - Background: Asthma affects 334 million people worldwide. Several genome wide association studies have been conducted to investigate the influence of genetic polymorphisms in the development of allergic diseases and asthma, but few of them have explored the X chromosome. Our goal was to perform a X wide association study for asthma.Methods: This study included a population based sample of 1,307 (705 males and 602 females) children of which 294 had asthma and 1,013 did not. DNA was extracted from peripheral blood and the samples were genotyped using 2.5HumanOmni beadchip from Illumina. Replication was done in a Latino Americans cohort (GALLA II, n=3,774) and another Brazilian cohort (Pelotas, n=3,544). Statistical analyses were performed in PLINK 1.9, MACH 1.0 and Minimac2.Results: We found two SNPs associated with asthma considering P-value <7.14x10-6. The most strongly associated SNP rs12007907 is located in IL1RAPL (IL1R accessory protein-like). The original findings for this SNP were replicated in the Pelotas cohort: we could replicate the association between rs12007907 and asthma in crude analysis (p<0.029) and the logistic regression adjusted by AIMs, but not adjusted by sex. It was not replicated in the Latino Americans cohort, however.Conclusion: The rs12007907 in IL1RAPL is associated with asthma in our study. It suggests a possible direct effect on asthma susceptibility and may explain differences in severe asthma frequency between women and men. Further replication is needed in population with similar minor allele frequency for rs12007907, which shall be complemented with functional data to understand the impact of this recently described gene in asthma. ER -