Genetic Variants of IL-13 and IL-4 in the Korean Population: Polymorphisms, Haplotypes and Linkage Disequilibrium
Genomics & Informatics
;
: 149-153, 2005.
Article
in English
| WPRIM
| ID: wpr-191505
ABSTRACT
Asthma is an inflammatory airways disease characterized by bronchial hyperresponsiveness and airways obstruction, which results from a complex interaction of genetic and environmental factors. Interleukin (IL)-13 and IL-4 are important in IgE synthesis and allergic inflammation, therefore genes encoding IL-13 and IL-4 are candidates for predisposition to asthma. In the present study, we screened single-nucleotide polymorphisms (SNPs) in IL-13 and IL-4 and examined whether they are risk factors for asthma. We resequenced all exons and the promoter region in 12 asthma patients and 12 normal controls, and identified 18 SNPs including 2 novel SNPs. The linkage disequilibrium(LD) pattern was evaluated with 16 common SNPs, and haplotypes were also estimated within the block. Although IL-13 and IL-4 are localized within 27 kb on chromosome 5q31 and share many biological profiles, this region was partitioned into 2 blocks. One SNP and three SNPs were determined as haplotype-taggingSNPs (htSNPs) within IL-13 and IL-4 haplotype-block, respectively. No significant associations were observed between any of the SNPs or haplotypes and development of asthma in small number of Korean subjects. However, the genetic variants of IL-13 and IL-4 would provide valuable strategies for the genotyping studies in large population.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Asthma
/
Haplotypes
/
Immunoglobulin E
/
Linkage Disequilibrium
/
Exons
/
Risk Factors
/
Interleukins
/
Interleukin-4
/
Promoter Regions, Genetic
/
Interleukin-13
Type of study:
Etiology study
/
Prognostic study
/
Risk factors
Limits:
Humans
Language:
English
Journal:
Genomics & Informatics
Year:
2005
Type:
Article
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