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KMID : 1132720050030040149
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Genomics & Informatics
2005 Volume.3 No. 4 p.149 ~ p.153
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Genetic Variants of IL-13 and IL-4 in the Korean Population: Polymorphisms, Haplotypes and Linkage Disequilibrium
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Ryu Ha-Jung
Jung Ho-Youl
Park Jung-Sun
Kim Jun-Woo
Kim Hyung-Tae
Park Choon-Sik
Han Bok-Ghee
Koh In-Song
Park Chan
Kimm Ku-Chan
Oh Berm-Seok
Lee Jong-Keuk
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Abstract
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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.
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KEYWORD
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Asthma, Haplotype, IL-4, IL-13, Linkage Disequilibrium
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