title: Association analysis of interleukin 5 receptor alpha subunit (IL5RA) polymorphisms and asthma.
abstract: The alpha subunit of interleukin 5 receptor (IL5RA) on chromosome 3p26-p24 is known to regulate the development and function of eosinophils. In an effort to discover additional polymorphism(s) in genes whose variant(s) have been implicated in asthma, we investigated the genetic polymorphisms in IL5RA to evaluate the gene as a potential candidate for a host genetic study of asthma. By direct DNA sequencing in 24 individuals, we identified 22 sequence variants within exons and flanking regions including a 1.5-kb promoter region of IL5RA; 10 common polymorphic sites were selected for genotyping in our asthma cohort (n = 587). Two haplotype blocks were identified in a Korean population. Statistical analysis revealed that one promoter SNP, c.-5993A > G, and one ins/del polymorphism in intron 3, c.-480_482insdelGTT, showed significant association with the risk of asthma development. The genetic effects of c.-5993A>G and c.-480_482insdelGTT on asthma were more apparent among atopic subjects. Our findings suggest that polymorphisms in IL5RA might be among the genetic risk factors for asthma development, especially in atopic populations. IL5RA variant/haplotype information identified in this study will provide valuable information for strategies for the control of asthma.
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc, Rm 1407, 14th floor, B-dong, WooLim Lion's Valley, 371-28, Gasan-dong, Geumcheon-Gu, 153-803 Seoul, Korea.
authors.forename: Hyun Sub
authors.initials: HS
authors.lastname: Cheong
authors.forename: Lyoung Hyo
authors.initials: LH
authors.lastname: Kim
authors.forename: Byung Lae
authors.initials: BL
authors.lastname: Park
authors.forename: Yoo Hyun
authors.initials: YH
authors.lastname: Choi
authors.forename: Hae-Sim
authors.initials: HS
authors.lastname: Park
authors.forename: Soo-Jong
authors.initials: SJ
authors.lastname: Hong
authors.forename: Byoung Whui
authors.initials: BW
authors.lastname: Choi
authors.forename: Choon-Sik
authors.initials: CS
authors.lastname: Park
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Shin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001249:Asthma / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D053666:Interleukin-5 Receptor alpha Subunit; D007723:Korea / Q000453:epidemiology; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D018123:Receptors, Interleukin / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C485918:IL5RA protein, human; D053666:Interleukin-5 Receptor alpha Subunit; D018123:Receptors, Interleukin