Evaluation of patients with nasal polyps about the possible association of desmosomal junctions, RORA and PDE4D gene.

OBJECTIVES: Nasal polyposis is chronic inflammatory disease of the nasal mucosa of the nose and sinuses, often associated with chronic non-allergic rhinitis, aspirin intolerance and non-allergic asthma. The etiology of nasal polyposis is unknown. Multiple factors contribute to the development of nasal polyps including genetic predisposition. PATIENTS AND METHODS: This study was conducted on patients applied due to nasal polyps. Blood samples were collected peripheral vein and stored at 4°C until analysis for DNA extraction. Genomic DNA was extracted from peripheral blood by a standard method, samples were studied in real time PCR. All patients were evaluated about the possible association of DSG1 (rs7236477-G, 96 rxn), DSG3 (rs1941184-C, 96 rxn), PDE4D (rs1588265) and RORA (rs11071559) gene. RESULTS: 32 patients (17 male, 15 female) with nasal polyposis were included to the study. The mean age was 34.9 ± 17.7 years, ranging between 18 and 55 years. Control group was consisted with 50 healthy volunteers without a history of nasal polyp. DSG1, DSG3 and RORA values of the study group were not statistically different from control group (p > 0.05). PDE4D values of the study group were significantly different from control group (p < 0.05). CONCLUSIONS: Multiple factors contribute to the pathogenesis of nasal polyps including genetic predisposition. The PDE4D family has gained interest in the complex pathogenesis of nasal polyposis. This is likely linked to the mucosal inflammatory response.

Polymorphisms in the IL28B gene (rs12979860, rs8099917) and the virological response to pegylated interferon therapy in hepatitis D virus patients.

AIM: Few data are available regarding the effects of interleukin 28B (IL28B) polymorphisms in chronic hepatitis D (CHD) patients. This study investigated the relationship between IL28B poly-morphisms and the response of patients with CHD infections to pegylated interferon (PEG-IFN) therapy. MATERIALS AND METHODS: A total of 101 CHD patients were -selected, 80 of whom (46 males ; median age 41 years) satisfied the inclusion criteria and were enrolled in the study. Thirty-seven patients were treated with peg-IFNα for at least 12 months and were followed for a median of 18 months (range, 12-30 months). The primary treatment endpoint was the suppression of HDV replication, as documented by the loss of detectable HDV RNA in serum. Genotyping was used to analyse the IL28B polymorphisms rs12979860 and rs8099917 according to the virological response. RESULTS: After treatment, a sustained viral response (SVR) was achieved in 19 (51%) of the patients treated with PEG-INF. The IL28B genotypes in the 80 patients were as follows : CC in 36 (45%), CT in 33 (41%) and TT in 11 (14%) for rs12979860, and GG in 4 (5%), GT in 27 (34%) and TT in 49 (61%) for rs8099917. SVR was achieved in 5 (26%), 10 (53%) and 4 (21%) patients with CC, CT and TT at rs12979860, respectively, and one (5%), nine (47%) and nine (47%) patients with GG, GT and TT at rs8099917, respectively. There were differences in the SVR among genotypes (rs12979860 and rs8099917 ; chi-squared test, p = 0.047). CONCLUSION: IL28B predicts the PEG-IFN response in patients with CHD infection.