The cysteinyl-leukotriene type 1 receptor polymorphism 927T/C is associated with atopy severity but not with asthma

Summary Background The cysteinyl‐leukotriene receptor type 1 (CysLT1) mediates the bronchoconstrictor and pro‐inflammatory actions of cysteinyl‐leukotrienes (LTC4, LTD4, LTE4) in asthma and is the molecular target of the lukast class of oral anti‐leukotriene drugs. We screened the CYSLTR1 gene on chromosome Xq13‐21 for coding region polymorphisms, and investigated their associations with allergy and asthma. Methods Solid‐phase chemical cleavage was used to screen polymorphisms in the coding region of CYSLTR1. A TaqMan allelic discrimination assay was used to genotype a 927T/C SNP and oligonucleotide ligation assays were used to genotype the previously reported 617T/C and 898G/A SNPs of CYSLTR1 in 341 asthmatic families from the UK. Associations with asthma diagnosis, atopic status, serum‐specific IgE and severity of allergy and asthma were examined. Results Family‐based association tests showed that the 927 T allele was associated with atopy severity, especially in female subjects, but not with asthma diagnosis or severity, atopic status, bronchial hyper‐responsiveness to methacholine or forced expiratory volume in 1 s. Conclusion Mutation screening identified only one polymorphism, 927T/C, in the coding region of the CysLT1 receptor. This polymorphsim is predictive of atopy severity, but not associated with asthma.