rs320995 (T927C) and rs7216389 (G1199A) Gene Polymorphisms in Asthma and Allergic Rhinitis: A Proof-of-Concept Study.

BACKGROUND AND OBJECTIVE

Asthma and allergic rhinitis have been reported to be strongly associated with genetic factors. The aim of this study was to evaluate the accuracy of the TaqMan-MGB (minor groove binder) qPCR method for detecting rs320995 (T927C) and rs7216389 (G1199A) gene polymorphisms as well as to explore the association of rs320995 and rs7216389 polymorphisms with genetic susceptibility of Chinese patients with asthma and allergic rhinitis.

METHODS

In this study, 310 asthmatic patients and 60 healthy individuals were recruited in Peking Union Medical College Hospital. The rs320995 (T927C) and rs7216389 (G1199A) gene polymorphisms in each group were analyzed by TaqMan-MGB qPCR and DNA sequencing which was regarded as the gold standard. After the validation of this method, additional 71 patients with allergic rhinitis and 72 patients with asthma combined with allergic rhinitis were selected and tested by using TaqMan-MGB qPCR.

RESULTS

The TaqMan-MGB qPCR results were fully consistent with DNA sequencing results (Kappa = 1, <0.001). In addition, the results of the TaqMan-MGB qPCR assay were not affected by bilirubin and lipids. We found differential distribution of rs320995 genotypes in female patients with asthma combined with allergic rhinitis ( =6.172, =0.046, statistical power = 0.591). Specifically, the TT genotype is more frequent in women suffering from asthma with allergic rhinitis, whereas the TC genotype is more prevalent in healthy women. However, no such associations were observed in the rs7216389 polymorphism.

CONCLUSION

We have established a reliable TaqMan-MGB qPCR method for the detection of rs320995 and rs7216389 polymorphisms. Moreover, the rs320995 polymorphism may be associated with genetic susceptibility of Chinese female patients with asthma and allergic rhinitis. Multicenter studies with larger sample sizes are required in the future.