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Background  We previously reported that the  ILVBL  gene on chromosome 19p13.1 was associated with the risk for aspirin-exacerbated respiratory disease (AERD) and the percent decline of forced expired volume in one second (FEV1) after an oral aspirin challenge test. In this study, we confirmed the association between polymorphisms and haplotypes of the ILVBL gene and the risk for AERD and its phenotype.    Methods  We recruited 141 AERD and 995 aspirin-tolerant asthmatic (ATA) subjects. All study subjects underwent an oral aspirin challenge (OAC). Nine single nucleotide polymorphisms (SNPs) with minor allele frequencies above 0.05, which were present in the region from 2 kb upstream to 0.5 kb downstream of ILVBL in Asian populations, were selected and genotyped.    Results  In an allelic association analysis, seven of nine SNPs were significantly associated with the risk for AERD after correction for multiple comparisons. In a codominant model, the five SNPs making up block2 ( rs2240299 ,  rs7507755 ,  rs1468198 ,  rs2074261 , and  rs13301 ) showed significant associations with the risk for AERD (corrected  P  = 0.001–0.004, OR = 0.59–0.64).  Rs1468198  was also significantly associated with the percent decline in FEV1 in OAC tests after correction for multiple comparisons in the codominant model (corrected  P  = 0.033), but the other four SNPs in hapblock2 were not.    Conclusion  To the best of our knowledge, this is the first report of an association between SNPs on  ILVBL  and AERD. SNPs on  ILVBL  could be promising genetic markers of this condition.    Electronic supplementary material  The online version of this article (10.1186/s12890-017-0556-6) contains supplementary material, which is available to authorized users.

Association analysis of ILVBL gene polymorphisms with aspirin-exacerbated respiratory disease in asthma