|
KMID : 0363320150360040547
|
|
Journal of Korean Oriental Internal Medicine
2015 Volume.36 No. 4 p.547 ~ p.561
|
|
|
Exonic SNP (rs7144, 3’-UTR) in CD46 Molecule and Complement Regulatory Protein (CD46) Gene Associated with Excess Syndrome to Categorize Korean Bronchial Asthma Patients
|
|
Lee Mei
Baek Hyun-Jung
Park Eui-Keun
Kim Kwan-Il
Lee Beom-Jun
Kim Su-Kang
Chung Joo-Ho
Kim Jin-ju
Kim Mi-A
Jung Doo-Young
Jung Sung-Ki
|
|
|
Abstract
|
|
|
Objectives: In this study, we divided Korean asthma patients into excess syndrome or deficiency syndrome groups according to clinical phenotype. Genetic analysis was conducted to investigate the association of exonic SNPs in the CD46 gene polymorphism with the clinical phenotype based on the differentiation syndrome of the bronchial asthma patients.
Methods: There were 95 healthy patients (control group) and 53 asthma patients. (The deficiency syndrome group included 24 and the excess syndrome group 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 the codominant 1 model and the dominant model between the healthy group and the asthma group. There were significant differences between deficiency syndrome group and the excess syndrome group in the genotype frequencies and in the codominant 1 model, the dominant model, and the log-additive model. The allele frequency of rs7144C showed a significant difference between the deficiency syndrome group and the excess syndrome group. Two-SNP haplotype analysis showed a significant difference in frequency in the deficiency syndrome group and in the excess syndrome group. There were significant differences between the healthy group and the excess syndrome group in the codominant 1 model, the dominant model, and the log-additive model. The frequency of the rs7144 C allele exhibited a significant difference in the demonstration. SNP haplotype analysis between the healthy group and the excess syndrome group showed a significant difference in the frequency of the CT haplotype and the CC haplotype.
Conclusions: The results indicate that two CD46 SNPs (rs138843816, Ser13Phe and rs7144, 3′?UTR) might be associated with the symptomatic excess syndrome in Korean asthma patients.
|
|
|
KEYWORD
|
|
|
Korean asthma patients, CD46, polymorphism, excess syndrome, deficiency syndrome
|
|
|
FullTexts / Linksout information
|
|
|
|
|
Listed journal information
|
|
|