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Original Article


Genetic Association Study in Nasal Polyposis


D Benito Pescador,1 M Isidoro-García,2,3 V García-Solaesa,2 M Pascual de Pedro,1 C Sanz,4 L Hernández-Hernández,1 J Sánchez-López,5 F Lorente,1,6 C Picado,5 A Valero,5 I Dávila1,6

1Department of Allergy, University Hospital of Salamanca, Salamanca, Spain
2Department of Clinical Biochemistry, University Hospital of Salamanca, Spain
3Department of Medicine, University of Salamanca, Spain
4Department of Genetics, University of Salamanca, Spain
5Centro de Investigación Biomédica en Red en Enfermedades Respiratorias (CIBERES) and Allergy Unit, Hospital Clínic, Barcelona, Spain
6Department of Pediatrics, University of Salamanca, Spain

J Investig Allergol Clin Immunol 2012; Vol. 22(5): 331-340



Background and Objectives: Nasal polyposis (NP) is a chronic inflammatory disease of the upper airways with a variable clinical course and unknown pathogenesis that often coexists with other conditions. Considering the possibility of genetic predisposition, we decided to analyze whether polymorphisms in LTC4S, CYSLTR1, PTGDR, and NOS2A were associated with NP.

Methods: The study population comprised 486 Caucasian individuals. Polyposis and aspirin intolerance were diagnosed following the recommendations of the European Position Paper on Rhinosinusitis and Nasal Polyps. Genotypes were determined using polymerase chain reaction amplification and direct sequencing.

Results: The –444A>C LTC4S polymorphism was significantly associated with NP and atopy (P=.033) and with NP and atopic asthma, (P=.012). In addition, a significant association was found when the (CCTTT) repetition of the NOS2A gene was present more than 14 times in patients with NP and asthma (P=.034), in patients with polyposis and intolerance to nonsteroidal anti-inflammatory drugs (P=.009), and in patients with the aspirin triad (P=.005). The PTGDR diplotype CCCT/CCCC (–613CC, –549CC, –441CC and –197TC) was more frequent in patients with NP (P=.043), NP with asthma (P=.013), and the aspirin triad (P=.041).

Conclusions: NP was associated with specifi c polymorphisms only when it occurred with related phenotypes. Our results suggest that this genetic background plays a more relevant role in the development of the associated clinical features of nasal polyposis than in simple polyposis.

Key words: Atopy. Asthma. CYSLTR1. LTC4S. Nasal polyposis. NOS2A. PTGDR. SNP.