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The Journal of Internal Korean Medicine > Volume 37(1); 2016 > Article
The Journal of Internal Korean Medicine 2016;37(1): 47-64.
한국인 기관지 천식 虛證, 實證 환자와 EDN1 유전자 다형성과의 상관성 연구
염유림1, 김관일2, 백현정1, 김미아3, 이범준1, 김진주4, 김수강5, 정주호5, 정희재1, 정승기1
1경희대학교 대학원 임상한의학과
2경희대학교 한방병원 한의약임상시험센터
3경희대학교 한의과대학 중풍센터
4경희대학교 약학대학 한방생리학교실
5경희대학교 의과대학 약리학교실
Association Study in Endothelin 1 (EDN1) Gene Polymorphism and Excess or Deficiency Syndrome in Korean Asthmatic Patients
Yu-rim Yoem1, Kwan-il Kim2, Hyun-jung Baek1, Mi-a Kim3, Beom-joon Lee1, Jin-ju Kim4, Su-kang Kim5, Joo-ho Chung5, Hee-jae Jung1, Sung-ki Jung1
1Dept. of Clinical Korean Medicine, Graduate School, Kyung Hee University
2Korean Medicine Clinical Trial Center, Kyung-Hee University Korean Medicine Hospital
3Dept. of Cardiovascular and Neurologic Diseases (Stroke center), College of Korean Medicine, Kyung-Hee University
4Dept. of Oriental Physiology, College of Pharmacy, Kyung-Hee University
5Dept. of Pharmacology, College of Medicine, Kyung-Hee University
Correspondence  Sung-ki Jung ,Tel: 02-958-9147 , Fax: 02-958-9148, Email: jskes1@gmail.com
Received: February 12, 2016,   Accepted: March 31, 2016,   Published online: March 31, 2016.
ABSTRACT
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.
Key words: EDN1, polymorphism, asthma, excess syndrome, deficiency syndrome
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