Tıp Fakültesi / Faculty of Medicine

Permanent URI for this collectionhttps://hdl.handle.net/11727/1403

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Author: search.filters.author.Ozdas, Talihsearch.filters.applied.f.rights: search.filters.rights.info:eu-repo/semantics/openAccess

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    Role of Single Nucleotide Polymorphisms of Mammaglobin-A Gene in Nasal Polyposis: A Case Control Study
    (2020) Oz, Isilay; Ozdas, Sibel; Bastimur, Sibel; Ozdas, Talih; Muz, Sami Engin; Atilla, Huntuk; Kurt, Kenan; Erbek, Selim; 0000-0003-4825-3499; 0000-0002-7380-4566; B-7604-2019; AAJ-1452-2021
    Objective: Nasal Polyposis (NP) is a chronic inflammatory disease and genetic factors play an important role in the pathophysiology. Mammaglobin-A (MGA) gene expression was significantly higher in patients with NP and chronic rhinosinusitis compared to normal mucosa. In the present study, we investigated the relationship between single nucleotide polymorphisms (SNPs) in the MGA gene and nasal polyposis in the Turkish population. Materials and Methods: A total of 87 patients diagnosed with NP and 60 healthy volunteers were enrolled in the study. Genotypes of MGA promoter SNPs c38C>G, c.21C>T, c55+186G>A and c.243+230A>T were determined by light SNP ASSAY after real time PCR analysis using genomic DNA samples obtained from the peripheral blood samples of all participants. Results: A total of 87 NP patients, 51 male and 36 female, with a mean age of 38.18 +/- 9.5 years were included in the study. No significant difference was determined at all positions c38C>G, c.21C>T, c55+186G>A and c.243+230A>T in nasal polyp patients compared to controls with and without allergic rhinitis (AR). Conclusion: MGA gene c38C>G, c.21C>T, c55 + 186G>A, and c.243 + 230A>T genotypes did not appear to be associated with susceptibility to NP with and without AR in our study population.
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    Single-Nucleotide Polymorphisms on the RYD5 Gene in Nasal Polyposis
    (2015) Ozdas, Sibel; Izbirak, Afife; Ozdas, Talih; Ozcan, Kursat Murat; Erbek, Selim S.; Koseoglu, Sabri; Dere, Huseyin; 26204469
    Nasal polyposis (NP) is a chronic inflammatory disease. Several genes play major roles in the pathophysiology of the disease. We analyzed RYD5 gene polymorphisms to determine the effect of these variants or their genetic combinations on NP. We genotyped the RYD5 gene in 434 participants (196 patients with NP and 238 controls). Data were analyzed with SPSS, SNPStats, and multifactor dimensionality reduction (MDR) software. We genotyped 10 single-nucleotide polymorphisms (SNPs) in the RYD5 gene. RYD5 (+152G>T) (p.Gly51Va) has not been reported previously. The PolyPhen and PROVEAN predicted the missense mutation as deleterious, but sorting intolerant from tolerant (SIFT) did not. In the genotype analysis, we found that four SNPs (RYD5 [-264A>G], [-103G>A], [+57-14C>T], and [+66A>G]) were significantly associated with NP. The individuals with combined genotypes of six risk alleles (RYD5-264G, -103A, +13C, +57-14T, +66G, and +279T) had significantly higher risks for NP compared with the ones with one or four risk alleles. Haplotype analysis revealed that the two haplotypes were associated with risk of NP. As indicated by MDR analysis, RYD5 (-264A>G and -103G>A) and RYD5 (-264A>G, -177C>A, and -103G>A) were the best predictive combinations and they had the highest synergistic interaction on NP. In addition, RYD5 (+13C>T) was significantly associated with increased risk of both NP with asthma and NP with allergy and asthma. Some SNPs and their combinations in the RYD5 gene are associated with increased probability for developing NP. We emphasize the importance of genetic factors on NP and NP-related clinical phenotypes.