Genetic Variants of IL-13 and IL-4 in the Korean Population: Polymorphisms, Haplotypes and Linkage Disequilibrium.
- Author:
Ha Jung RYU
1
;
Ho Youl JUNG
;
Jung Sun PARK
;
Jun Woo KIM
;
Hyung Tae KIM
;
Choon Sik PARK
;
Bok Ghee HAN
;
Insong KOH
;
Chan PARK
;
Kuchan KIMM
;
Bermseok OH
;
Jong Keuk LEE
Author Information
1. National Genome Research Institute, National Institute of Health, Seoul 122-701, Korea.
- Publication Type:Original Article
- MeSH:
Asthma;
Exons;
Haplotypes*;
Humans;
Immunoglobulin E;
Inflammation;
Interleukin-13*;
Interleukin-4*;
Interleukins;
Linkage Disequilibrium*;
Polymorphism, Single Nucleotide;
Promoter Regions, Genetic;
Risk Factors
- From:Genomics & Informatics
2005;3(4):149-153
- CountryRepublic of Korea
- Language:English
-
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.
