tailieunhanh - Báo cáo y học: "Polymorphisms of two histamine-metabolizing enzymes genes and childhood allergic asthma: a case control study"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Critical Care giúp cho các bạn có thêm kiến thức về ngành y học đề tài: Polymorphisms of two histamine-metabolizing enzymes genes and childhood allergic asthma: a case control study. | Szczepankiewicz et al. Clinical and Molecular Allergy 2010 8 14 http content 8 1 14 RESEARCH CMA CLINICAL AND MOLECULAR ALLERGY Open Access Polymorphisms of two histamine-metabolizing enzymes genes and childhood allergic asthma a case control study 1 2 2 2 Aleksandra Szczepankiewicz Anna Brẹborowicz Paulina Sobkowiak Anna Popiel Abstract Background Histamine-metabolizing enzymes N-methyltransferase and amiloride binding protein 1 are responsible for histamine degradation a biogenic amine involved in allergic inflammation. Genetic variants of HNMT and ABP1 genes were found to be associated with altered enzyme activity. We hypothesized that alleles leading to decreased enzyme activity and therefore decreased inactivation of histamine may be responsible for altered susceptibility to asthma. Methods The aim of this study was to analyze polymorphisms within the HNMT and ABP1 genes in the group of 149 asthmatic children and in the group of 156 healthy children. The genetic analysis involved four polymorphisms of the HNMT gene rs2071048 -1637T C rs11569723 -411C T rs1801105 Thr105Ile 314C T and rs1050891 1097A T and rs1049793 His645Asp polymorphism for ABP1 gene. Genotyping was performed with use of PCR-RFLP. Statistical analysis was performed using Statistica software linkage disequilibrium analysis was done with use of Haploview software. Results We found an association of TT genotype and T allele of Thr105Ile polymorphism of HNMT gene with asthma. For other polymorphisms for HNMT and ABP1 genes we have not observed relationship with asthma although the statistical power for some SNPs might not have been sufficient to detect an association. In linkage disequilibrium analysis moderate linkage was found between -1637C T and -411C T polymorphisms of HNMT gene. However no significant differences in haplotype frequencies were found between the group of the patients and the control group. Conclusions Our results indicate modifying influence of