Genomics Inform.  2005 Dec;3(4):149-153.

Genetic Variants of IL-13 and IL-4 in the Korean Population: Polymorphisms, Haplotypes and Linkage Disequilibrium

• Ryu HJ
• Jung HY
• Park JS
• Kim JW
• Kim HT
• Park CS
• Han BG
• Koh I
• Park C
• Kimm K
• Oh B
• Lee JK

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.

MeSH Terms

Asthma
Exons
Haplotypes*
Humans
Immunoglobulin E
Inflammation
Interleukin-13*
Interleukin-4*
Interleukins
Linkage Disequilibrium*
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Risk Factors
Immunoglobulin E
Interleukin-13
Interleukin-4
Interleukins