Abstract
The aim of the current study is to investigate the potential relationship between polymorphisms and nasal polyposis (NP) pathogenesis in the SCGB3A1 (UGRP2) gene, which is a member of the secretoglobin gene super family. Genotypic variations were studied by performing DNA sequencing in blood samples of 80 patients with NP and 70 healthy individuals to evaluate nucleotide changes and their positions that might be in the SCGB3A1 gene (promotor, splicing points, and exon distributions). In the SCGB3A1 gene, three single-nucleotide changes labeled IVS1−89 T>G, c. −183 G>T, IVS1−189 G>A were identified. IVS1−89 T>G and IVS1−189 G>A belong to the first intronic region of the gene, whereas c. −183 G>T was observed in the promoter region of the gene. The IVS1−89 T>G nucleotide change was observed in the patient and control groups, whereas c. −183 G>T and IVS1−189 G>A nucleotide changes were observed in the control group only. SCGB3A1 (IVS1−89) genotype frequencies between patients with NP and control group were not significantly different (p = 0.311). There was a statistically significant difference in the control group in comparison to patients with NP in terms of SCGB3A1 (c. −183 GT) and SCGB3A1 (IVS1−189 GA) frequency (p = 0.0045 and p = 0.009, respectively). The findings of the current study suggest that SCGB3A1−183 T and SCGB3A1 IVS1−189 A alleles might have a protective effect against NP, and that SCGB3A1 (−183 GT and IVS1−189 GA) genotypes should be studied in future population-based studies.
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References
Larsen K, Tos M (2002) The estimated incidence of symptomatic nasal polyps. Acta Otolaryngol 122:179–182
Erbek SS, Yurtcu E, Erbek S et al (2007) Proinflammatory cytokine single nucleotide polymorphisms in nasal polyposis. Arch Otolaryngol Head Neck Surg 133:705–709
Hosemann W, Göde U, Wagner W (1994) Epidemiology, pathophysiology of nasal polyposis, and spectrum of endonasal sinus surgery. Am J Otolaryngol 15:85–98
Hedman J, Kaprio J, Poussa T, Nieminen M (1999) Prevalence of asthma, aspirin intolerance, nasal polyposis and chronic obstructive pulmonary disease in a population-based study. Int J Epidemiol 28:717–722
Johansson L, Akerlund A, Holmberg K et al (2003) Prevalence of nasal polyps in adults: the Skovde population-based study. Ann Otol Rhinol Laryngol 112:625–629
Bateman ND, Fahy C, Woolford TJ (2003) Nasal polyps: still more questions than answers. J Laryngol Otol 117:1–9
Haukim N, Bidwell JL, Keen L et al (2002) Cytokine gene polymorphism in human dis-ease: on-line databases, supplement 2. Genes Immun 3:313–330
Hao J, Pang YT, Wang DY (2006) Diffuse mucosal inflammation in nasal polyps and adjacent middle turbinate. Otolaryngol Head Neck Surg 134:267–275
Liu Z, Lu X, Zhang XH (2009) Clara cell 10-kDa protein expression in chronic rhinosinusitis and its cytokine-driven regulation in sinonasal mucosa. Allergy 64:149–157
Liu Z, Kim J, Sypek JP et al (2004) Gene expression profiles in human nasal polyp tissues studied by means of DNA microarray. J Allergy Clin Immunol 114:783–790
Wang X, Dong Z, Zhu DD, Guan B (2006) Expression profile of immune-associated genes in nasal polyps. Ann Otol Rhinol Laryngol 115:450–456
Shijubo N, Itoh Y, Yamaguchi T et al (1999) Clara cell protein-positive epithelial cells are reduced in small airways of asthmatics. Am J Respir Crit Care Med 160:930–933
Jackson BC, Thompson DC, Wright MW et al (2011) Update of the human secretoglobin (SCGB) gene superfamily and an example of ‘evolutionary bloom’ of androgen-binding protein genes within the mouse Scgb gene superfamily. Hum Genomics 5:691–702
Reynolds SD, Reynolds PR, Pryhuber GS et al (2002) Secretoglobins SCGB3A1 and SCGB3A2 define secretory cell subsets in mouse and human airways. Am J Respir Crit Care Med 166:1498–1509
Porter D, Lahti-Domenici J, Torres-Arzayus M et al (2002) Expression of high in normal-1 (HIN-1) and uteroglobin related protein-1 (UGRP-1) in adult and developing tissues. Mech Dev 114:201–204
Mazumdar J, Hickey MM, Pant DK et al (2010) HIF-2alpha deletion promotes Kras-driven lung tumor development. Proc Natl Acad Sci USA 107:14182–14187
Lu X, Wang N, Long XB et al (2011) The cytokine-driven regulation of secretoglobins in normal human upper airway and their expression, particularly that of uteroglobin-related protein 1, in chronic rhinosinusitis. Respir Res 12:28
Krop I, Parker MT, Bloushtain-Qimron N et al (2005) HIN-1, an inhibitor of cell growth, invasion, and AKT activation. Cancer Res 65:9659–9669
Yamada A, Kimura S (2005) Induction of uteroglobin-related protein 2 (Ugrp2) expression by EGF and TGF-α. FEBS Lett 579:2221–2225
Lund VJ, Mackay IS (1993) Staging in Rhinosinusitis. Rhinology 31:183–184
Lildholdt T, Rundcrantz H, Bende M et al (1997) Glucocorticoid treatment for nasal polyps. The use of topical budesonide powder, intramuscular betamethasone, and surgical treatment. Arch Otolaryngol Head Neck Surg 123:595–600
Hirschhorn JN, Daly MJ (2005) Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 6:95–108
Altshuler DM, Gibbs RA, Peltonen L et al (2010) Integrating common and rare genetic variation in diverse human populations. Nature 467:52–58
Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in messenger RNA splice junctions of human genes—causes and consequences. Hum Genet 90:41–54
Carothers AM, Urlaub G, Grunberger D et al (1993) Splicing mutants and their second-site suppressors at the dihydrofolate reductase locus in Chinese hamster ovary cells. Mol Cell Biol 13:5085–5098
Nakai K, Sakamoto H (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene 141:171–177
Sterner DA, Berget SM (1993) In vivo recognition of a vertebrate mini-exon as an exon–intron–exon unit. Mol Cell Biol 13:2677–2687
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This study was approved by Ankara Numune Education and Research Hospital Research Ethics Committee (Project No: 354) and financially supported by Ankara Numune Education and Research Hospital Research Fund.
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Palalı, M., Murat Özcan, K., Özdaş, S. et al. Investigation of SCGB3A1 (UGRP2) gene arrays in patients with nasal polyposis. Eur Arch Otorhinolaryngol 271, 3209–3214 (2014). https://doi.org/10.1007/s00405-014-3020-8
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DOI: https://doi.org/10.1007/s00405-014-3020-8