Genetic Variants of IL-13 and IL-4 in the Korean Population: Polymorphisms, Haplotypes and Linkage Disequilibrium
Genomics & Informatics
;
: 149-153, 2005.
Artículo
en Inglés
| 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.
Texto completo:
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Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Asma
/
Haplotipos
/
Inmunoglobulina E
/
Desequilibrio de Ligamiento
/
Exones
/
Factores de Riesgo
/
Interleucinas
/
Interleucina-4
/
Regiones Promotoras Genéticas
/
Interleucina-13
Tipo de estudio:
Estudio de etiología
/
Estudio pronóstico
/
Factores de riesgo
Límite:
Humanos
Idioma:
Inglés
Revista:
Genomics & Informatics
Año:
2005
Tipo del documento:
Artículo
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