Association between Major Single Nucleotide Polymorphism and Haplotype of the ADRB2 Gene and Korean Children with Asthma.
10.7581/pard.2012.22.4.354
- Author:
Jong Hun KWAK
1
;
Jeong Hee KIM
;
Dae Hyun LIM
;
Jun Mo YANG
;
Sin Young PARK
;
Sung Il CHO
;
Byong Kwan SON
Author Information
1. Department of Pediatrics, Inha University School of Medicine, Incheon, Korea. sonbk@inha.ac.kr
- Publication Type:Original Article
- Keywords:
Childhood asthma;
Beta-2 adrenergic receptors;
Single nucleotide polymorphism;
Haplotype
- MeSH:
Aging;
Alleles;
Asthma;
Child;
DNA;
Haplotypes;
Homozygote;
Humans;
Polymorphism, Single Nucleotide;
Receptors, Adrenergic, beta-2
- From:Pediatric Allergy and Respiratory Disease
2012;22(4):354-363
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: Development of asthma involves the interaction between genetic factors and environmental stimuli. This study aims to investigate whether major single nucleotide polymorphism (SNP)s and their haplotypes of the ADRB2 (beta2-adrenoceptor) gene are associated with children with asthma in Korea. METHODS: Children with asthma aging 5 to 15 years old were recruited as the patient group, and children without respiratory diseases or asthma of the same age were recruited as the control group. Blood samples of 5 mL were collected and DNA was extracted by standard methods. Genotyping was done for 6 SNPs known to have a frequency of more than 4%, including 1309A>G, 1342C>G, 1515G>A, 1786C>A, 2316G>C, 2502G>A. RESULTS: Overall, 438 subjects (214 patients and 224 controls) were included in this study. Minor allele homozygote frequency of 6 SNP were 22%, 1.8%, 11%, 12.3%, 21.2% and 13.0%, respectively. Differences between both groups of individual SNP frequencies were not statistically significant, although the difference of the frequency of the second SNP (1342C>G) has borderline significance (P=0.06). Overall distributions of haplotypes were not significantly different between both groups. However, analysis of specific SNPs among haplotypes revealed that haplotypes including the 2nd SNP were significantly associated with asthma (odds ratio, 1.7; 95% confidence interval, 1.1 to 2.6). Combinations of haplotypes excluding the 2nd SNP did not show significant difference between both groups. CONCLUSION: This study suggests that the ADRB2 gene polymorphism is associated with susceptibility to childhood asthma and that analysis of haplotypes rather than SNPs is more reliable in this association.
