[Study on the mutation of Filaggrin gene in nasal polyps]

Objective:The aim of this study is to investigate the relationship between Filaggrin(FLG) gene mutations and nasal polyps. Method:Genomic DNA was extract from 48 nasal polyps tissues, and 30 samples of inferior turbinate tissues from normal human controls. Two FLG gene mutation points (R501X and 3321delA) were detected by polymerase chain reaction (PCR) first, then detected by polypropylene gel electrophoresis, and finally gene sequencing. Result:The FLG gene c. 3321delA was found in 2 cases (4.17%) of nasal polyps, both of them were heterozygous mutations. and the control group did not detected this mutation. At the same time, the new mutation site of FLG (c. 1711C>A) was found 12 patients in cases group (25.00%), two of which were homozygous mutation 4.17% (2/48). Only one of homozygous mutation was found in the control group 3.33% (1/30). The difference of c. 1711C>A in mutation rate between the case group and the control group was statistically significant (P<0.05). Conclusion:The mutation of the FLG gene is associated with the occurrence and the development of nasal polyps, which may be one of the causes of nasal polyps.