title: Identification of polymorphisms in human interleukin-27 and their association with asthma in a Korean population.
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.
authors.affiliation: Genome Research Center for Immune Disorders, Wonkwang University School of Medicine, Iksan, Chonbuk, 570-749, South Korea.
authors.forename: Soo-Cheon
authors.initials: SC
authors.lastname: Chae
authors.affiliation: Department of Microbiology and Immunology, Wonkwang University School of Medicine, Iksan, Chonbuk, 570-749, South Korea.|Department of Pharmacology, Yanbian University Medical College, Yianji, Jilin, China.
authors.forename: Chun-Shi
authors.initials: CS
authors.lastname: Li
authors.affiliation: Genome Research Center for Immune Disorders, Wonkwang University School of Medicine, Iksan, Chonbuk, 570-749, South Korea.
authors.forename: Ki Mo
authors.initials: KM
authors.lastname: Kim
authors.affiliation: Genome Research Center for Immune Disorders, Wonkwang University School of Medicine, Iksan, Chonbuk, 570-749, South Korea.
authors.forename: Ji Yeon
authors.initials: JY
authors.lastname: Yang
authors.affiliation: Department of Microbiology and Immunology, Yanbian University Medical College, Yianji, Jilin, China.
authors.forename: Qinggao
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: Department of Internal Medicine, Research Center for Allergic Immune Diseases, Chonbuk National University Medical School, Chonju, Chonbuk, South Korea.
authors.forename: Yong-Chul
authors.initials: YC
authors.lastname: Lee
authors.affiliation: Department of Ophthalmology, Wonkwang University School of Medicine, Iksan, Chonbuk, 570-749, South Korea.
authors.forename: Yun-Sik
authors.initials: YS
authors.lastname: Yang
authors.affiliation: Genome Research Center for Immune Disorders, Wonkwang University School of Medicine, Iksan, Chonbuk, 570-749, South Korea. htchung@wonkwang.ac.kr.|Department of Microbiology and Immunology, Wonkwang University School of Medicine, Iksan, Chonbuk, 570-749, South Korea. htchung@wonkwang.ac.kr.
authors.forename: Hun-Taeg
authors.initials: HT
authors.lastname: Chung
mesh_terms: D044466:Asian People / Q000235:genetics; D001249:Asthma / Q000235:genetics*; D016022:Case-Control Studies; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D020381:Interleukin-17 / Q000235:genetics*; D007723:Korea; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics
chemical_list: D020381:Interleukin-17