title: Single-Nucleotide Polymorphisms on the RYD5 Gene in Nasal Polyposis.
abstract: 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.
authors.affiliation: 1 Department of Moleculer Biology, Faculty of Science, Hacettepe University , Ankara, Turkey .
authors.forename: Sibel
authors.initials: S
authors.lastname: Özdaş
authors.affiliation: 1 Department of Moleculer Biology, Faculty of Science, Hacettepe University , Ankara, Turkey .
authors.forename: Afife
authors.initials: A
authors.lastname: İzbirak
authors.affiliation: 2 Otolaryngology Clinic, Yenimahalle Education and Research Hospital , Ankara, Turkey .
authors.forename: Talih
authors.initials: T
authors.lastname: Özdaş
authors.affiliation: 3 Otolaryngology Clinic B, Ankara Numune Education and Research Hospital , Ankara, Turkey .
authors.forename: Kürşat Murat
authors.initials: KM
authors.lastname: Özcan
authors.affiliation: 4 Department of Otolaryngology, Faculty of Health, Başkent University , Ankara, Turkey .
authors.forename: Selim S
authors.initials: SS
authors.lastname: Erbek
authors.affiliation: 3 Otolaryngology Clinic B, Ankara Numune Education and Research Hospital , Ankara, Turkey .
authors.forename: Sabri
authors.initials: S
authors.lastname: Köseoğlu
authors.affiliation: 3 Otolaryngology Clinic B, Ankara Numune Education and Research Hospital , Ankara, Turkey .
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Dere
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001249:Asthma / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D006967:Hypersensitivity / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009298:Nasal Polyps / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D060765:Secretoglobins / Q000235:genetics*; D014421:Turkey; D055815:Young Adult
chemical_list: C556476:SCGB1C1 protein, human; D060765:Secretoglobins