Abstract

Asthma is a complex polygenic disease in which Cysteinyl Leukotrienes (Cys-LTs) are a potential risk factors causing airway inflammation and remodeling, which are characteristics of asthma. The polymorphisms in the leukotriene C4 synthase -444A/C and cysteinyl leukotriene receptor1 927 T/C genes has been implicated in susceptibility to asth ma. The objective of this study was to analyse two different polymorphisms, LTC4S-444 A/C and Cys-LTR1 927 T/C single nucleotide polymorphism and to determine whether there is an association betwee n these polymorphisms and asthma development. The study included two groups (30 asthmatics and 30 hea lthy controls). They were genotyped for the LTC4S444 A/C and CysLTR1 927 T/C polymorphisms by PCR-RFLP. Their total serum IgE levels and urinary LTE4 levels were measured by Enzyme Linked Immunosorbent Assay (ELISA). IgE levels and urinary leukotriene E4 levels were higher in patient group than control group. The genotype and allele frequencies of both LTC4S-444 A/C and CysLTR1 927 T/C polymorphism were not significantly different between asthmatic patients and control gr oup. While urinary leukotriene E4 levels were significantly higher in variant types of LTC4 synth ase (AC and CC) compared to wild type (AA). This study does not support the role of these polymorphi sms in genetic susceptibility to asthma but provide an evidence for a functional role of LTC4 synthase-444 A/C polymorphism on Cys-LT synthesis.

Highlights

  • This study aimed to analyse polymorphisms in LTC4S-444 A/C and CysLTR1 927 T/C genes and their interaction and to determine whether there is an association between these polymorphisms and asthma development in Egyptian asthmatic patients

  • There was a significant differences in urinary leukotriene E4 levels according to LTC4S-444 A/C promoter polymorphism in asthmatics (p

  • In conclusion the current investigation does not support an important role for either LTC4S-444 A/C and CysLTR1 927 T/C nor their gene-gene interaction in development of asthma in our studied population

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Summary

Objectives

This study aimed to analyse polymorphisms in LTC4S-444 A/C and CysLTR1 927 T/C genes and their interaction and to determine whether there is an association between these polymorphisms and asthma development in Egyptian asthmatic patients

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