Objective: In this study, we divided korean asthma patients into Excess Syndrome or Deficiency Syndrome according to clinical phenotype. Genetic analysis was conducted to investigate the association of Exonic SNPs in the CD46 gene polymorphism with clinical phenotype based on differentiation syndrome of bronchial asthma patients.
Materials and Methods: There were 95 healthy patients (control group) and 53 asthma patients. (Deficiency syndrome group was 24 and Excess Syndrome group was 29). We searched the exonic areas of the CD46 gene in the NCBI website SNPs with <0.01 minor allele frequency (MAF) and <0.01 heterozygosity. We finally selected two SNPs rs138843816, Ser13Phe and rs7144, 3’-UTR. Hardy-Weinberg equilibrium was calculated using SNPStats.
Results: There were significant differences in codominant 1 model and dominant model between Healthy group and Asthma group. There were significant differences between Deficiency syndrome group and Excess syndrome group in the genotype frequencies and in codominant 1 model, dominant model and log-additive model. The allele frequency of rs7144C had a significant difference between Deficiency syndrome group and Excess syndrome group. Two SNP haplotype analysis showed a significant difference in the frequency of Deficiency syndrome group and Excess syndrome group. There were no significant differences between Healthy group and Deficiency syndrome group. There were significant differences in healthy group and Excess syndrome group in codominant 1 model, dominant model and log-additive model. The frequency of the rs7144 C allele had a significant difference in the demonstration. SNP haplotype analysis between healthy group and Excess syndrome group showed a significant difference in the CT haplotype and CC haplotyped the frequency.
Conclusions: The results indicate that two CD46 SNP (rs138843816, Ser13Phe and rs7144, 3''-UTR) might be associated with the symptomatic of Excess Syndrome by Korean asthma patients.