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KMID : 0363320160370010047
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Journal of Korean Oriental Internal Medicine
2016 Volume.37 No. 1 p.47 ~ p.64
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Association Study in Endothelin 1 (EDN1) Gene Polymorphism and Excess or Deficiency Syndrome in Korean Asthmatic Patients
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Yoem Yu-Rim
Kim Kwan-Il
Baek Hyun-Jung
Kim Mi-A
Lee Beom-Joon
Kim Jin-ju
Kim Su-Kang
Chung Joo-Ho
Jeong Hee-Jae
Jeong Seung-Ki
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Abstract
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Objectives: In the present study, a genetic analysis was conducted to investigate the association of the expression of SNPs
of EDN1 gene polymorphism with the clinical phenotype in bronchial asthma patients with either excess or deficiency syndrome.
Methods: Ninety-four healthy control subjects and 52 asthma patients were included in this study. The asthma patients
were divided into two groups: those with deficiency syndrome and those with excess syndrome. We searched the exonic and promoter
areas of the EDN1 gene in the NCBI website SNPs with <0.01 minor allele frequency (MAF) and <0.01 heterozygosity. Pro
programs were performed to obtain the odds ratio, 95% confidence interval, and p-value. Multiple logistic regression models
were conducted to analyze the genetic data.
Results: In our genotype and allele analyses, there were significant differences in the codominant 2 model of the rs3087459
SNP genotype and also in the CGG haplotype between the control group and the asthma group. Genotype and allele analyses
were conducted between the deficiency and excess syndrome group. There were significant differences in the dominant and
log-additive model and also in the frequency of C-alleles of rs3087459 SNP genotype. There were significant differences in codominant 1,
dominant and log-additive model and T-allele of rs5370 SNP genotype. The AGG haplotype also revealed significant differences.
Conclusions: EDN1 SNPs (rs3087459, rs5370) showed a significant association with symptomatic excess syndrome in Korean
asthmatic patients.
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KEYWORD
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EDN1, polymorphism, asthma, excess syndrome, deficiency syndrome
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