Abstract
Interleukin 27 (IL-27) acts as a versatile cytokine in the early regulation of Th1 initiation and in the negative regulation of the Th2 factor GATA-3. IL-27, which was discovered as a novel heterodimeric cytokine of the IL-12 family, consists of two subunits, the Epstein-Barr virus-induced gene 3 (EBI3) and p28. The IL-27 cytokine is mediated by one of the receptor chains (WSX-1) of the IL-27 receptor that is highly expressed on CD4+ T lymphocytes and NK cells. Although signaling of IL-27/WSX-1 interactions have been recognized in the down-regulation of airway hyper-reactivity and in lung inflammation during the development of allergic asthma, little is known about the role of single nucleotide polymorphisms (SNPs) of IL-27 and individual susceptibility to asthma. To address this question, we have examined the five exons and the boundary intron sequences of IL-27P28, including the promoter regions, with the aim of identifying sites of variation that may be useful for understanding the genetic influences of this gene. We identified four SNPs, g.-964A > G, g.2905T > G, g.4603G > A and g.4730T > C, and analyzed the genotype and allele frequencies between asthma patients and healthy controls. Our results strongly suggest that the g.-964A > G polymorphism of IL-27p28 is most likely associated with susceptibility to asthma. Moreover, we elucidate the haplotype frequencies of g.2905T > G, g.4603G > A and g.4730T > C in terms of their relative correlation with asthma patients and healthy controls.
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Acknowledgements
This work was supported by a grant from the Korea Health 21 R&D Project, by the Ministry of Health & Welfare (01-PJ3-PG6-01GN09-003).
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S.-C. Chae and C.-S. Li contributed equally to this work
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Chae, SC., Li, CS., Kim, K.M. et al. Identification of polymorphisms in human interleukin-27 and their association with asthma in a Korean population. J Hum Genet 52, 355–361 (2007). https://doi.org/10.1007/s10038-007-0123-8
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DOI: https://doi.org/10.1007/s10038-007-0123-8
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