Association of polymorphisms in the mast cell chymase gene promoter region (-1903 g/A) and (TG)n(GA)m repeat downstream of the gene with bronchial asthma in children

• Published in: Journal of investigational allergology & clinical immunology Vol. 18; no. 5; pp. 376 - 381
• Main Authors: Hossny, E M, Amr, N H, Elsayed, S B, Nasr, R A, Ibraheim, E M
• Format: Journal Article
• Language: English
• Published: Spain 2008
• Subjects: Asthma - genetics; Asthma - immunology; Case-Control Studies; Cell Degranulation - immunology; Child; Chymases - genetics; Chymases - immunology; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Immunoglobulin E - blood; Male; Mast Cells - immunology; Mast Cells - metabolism; Polymorphism, Single Nucleotide; Promoter Regions, Genetic - genetics; Promoter Regions, Genetic - immunology; Tandem Repeat Sequences - immunology
• ISSN: 1018-9068

Mast cell chymase is a mediator of inflammation and remodeling in the asthmatic lung. Although various studies have examined the association between the -1903 G/A single nucleotide polymorphism (SNP)in the mast cell chymase gene (CMA1) and allergic phenotypes, the results have been inconsistent. A (TG)n(GA)m repeat polymorphism 254 base pairs downstream of CMA1 has been reported in adult asthmatics. We investigated the relationship between these CMA1 genetic variants and childhood asthma in Egyptian children. A case-control study was undertaken in 15 children (6-10 years old) with bronchial asthma enrolled consecutively during exacerbation and 15 age-matched and sex-matched nonasthmatic control subjects. Genotyping was performed by polymerase chain reaction (PCR) restriction fragment length polymorphism to search for polymorphisms in the CMA1 gene promoter region (-1903 G/A) and PCR amplification followed by sequencing to detect the (TG)n(GA)m repeat 254 base pairs downstream of the gene. Our data showed a positive association between the CMA1 -1903 G/A SNP and asthma in children. The G allele was detected in 70% of patients while the A allele was more frequent in the controls (83.3%). Concerning the (TG)n(GA)m repeat, allele 39 was only present in asthmatics while allele 37 was more common in controls. We report the association of the -1903 G/A CMA1 SNP and (TG)n(GA)m repeat polymorphism with bronchial asthma in a group of Egyptian children. These polymorphisms are possible determinants of asthma susceptibility and may be involved in regulating immunoglobulin E levels.