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Associations of ECP (eosinophil cationic protein)-gene polymorphisms to allergy, asthma, smoke habits and lung function in two Estonian and Swedish sub cohorts of the ECRHS II study

DOI: 10.1186/1471-2466-10-36

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Abstract:

Swedish and Estonian subjects (n = 757) were selected from the larger cohort of the ECRHS II study cohort. The prevalence of the gene polymorphisms ECP434(G>C) (rs2073342), ECP562(G>C) (rs2233860) and ECP c.-38(A>C) (rs2233859) were analysed by DNA sequencing and/or real-time PCR and related to questionnaire-based information of allergy, asthma, smoking habits and to lung functions.Genotype prevalence showed both ethnic and gender differences. Close associations were found between the ECP434(G>C) and ECP562(G>C) genotypes and smoking habits, lung function and expression of allergic symptoms. Non-allergic asthma was associated with an increased prevalence of the ECP434GG genotype. The ECP c.-38(A>C) genotypes were independently associated to the subject being atopic.Our results show associations of symptoms of allergy and asthma to ECP-genotypes, but also to smoking habits. ECP may be involved in impairment of lung functions in disease. Gender, ethnicity and smoking habits are major confounders in the evaluations of genetic associations to allergy and asthma.The Eosinophil Cationic Protein (ECP), also named RNase 3, is a multifunctional protein with both cytotoxic and fibrogenic properties [1-3]. High levels of ECP were found in blood, bronchoalveolar lavage, saliva and sputum of subjects with allergic asthma indicating the presence of activated eosinophils in the disease process [1,4]. Recently several common polymorphisms were described in the ECP gene [5]. One of these polymorphisms ECP434(G>C) affects the protein coding part of ECP and gives rise to a change in the amino acid arginine at position 97 to threonine [2]. This substitution dramatically alters the function of ECP from a cytotoxic to a non-cytotoxic molecule. Another polymorphism was found in the 3'UTR region ECP562(G>C) and shown to be related to the cellular content of ECP [6]. A third polymorphism was seen in the intron of the ECP gene, ECP c.-38(A>C), and shown by others to be related to serum level

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