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-joon; Kim, Su-kang; Chung, Joo-ho; Kim, Jin-ju; Kim, Mi-a; Jung, Hee-jae; Jung, Sung-ki

The Journal of Internal Korean Medicine > Volume 36(4); 2015 > Article

Article

The Journal of Internal Korean Medicine 2015;36(4): 547-560.

한국인 기관지 천식 虛證, 實證 환자와 CD46 유전자 다형성과의 관계

이매¹, 백현정¹, 박의근¹, 김관일², 이범준¹, 김수강³, 정주호³, 김진주⁴, 김미아⁵, 정희재¹, 정승기¹

¹경희대학교 한의과대학 폐계내과학교실
²경희대학교 한방병원 한의약임상시험센터
³경희대학교 의과대학 약리학교실
⁴경희대학교 약학대학 한방생리학교실
⁵경희대학교 한의과대학 중풍센터

Exonic SNP (rs7144, 3’-UTR) in CD46 Molecule and Complement Regulatory Protein (CD46) Gene Associated with Excess Syndrome to Categorize Korean Bronchial Asthma Patients

Mei Lee¹, Hyun-jung Baek¹, Eui-keun Park¹, Kwan-il Kim², Beom-joon Lee¹, Su-kang Kim³, Joo-ho Chung³, Jin-ju Kim⁴, Mi-a Kim⁵, Hee-jae Jung¹, Sung-ki Jung¹

¹Division of Allergy, Immune & Respiratory System, Dept. of Internal Medicine, College of Korean Medicine, Kyung-Hee University
²Korean Medicine Clinical Trial Center, Kyung-Hee University Korean Medicine Hospital
³Dept. of Pharmacology, College of Medicine, Kyung-Hee University
⁴Dept. of Oriental Physiology, College of Pharmacy, Kyung-He University
⁵Dept. of Cardiovascular and Neurologic Diseases (Stroke center), College of Korean Medicine, Kyung-He University

Correspondence

Sung-ki Jung ,Tel: 02-958-9147, Fax: 02-958-9148, Email: jskes1@gmail.com

Received: December 3, 2015, Accepted: December 29, 2015, Published online: December 31, 2015.

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.

Key words: Korean asthma patients, CD46, polymorphism, excess syndrome, deficiency syndrome