title: Identification of novel SNPs in the interleukin 6 receptor gene (IL6R).
abstract: The human interleukin-6 receptor (IL6R) is responsible for signal transduction of IL6 that might have associations with immune diseases and various infectious diseases. We have sequenced all 10 exons including the putative splicing site to identify single nucleotide polymorphisms in IL6R. Seven novel single nucleotide polymorphisms (SNPs) were identified; one SNP in the promoter region (-183G>A), one synonymous SNP in exon 2 (24013G>A: Ala31Ala), one non-synonymous SNP in exon 9 (48892A>C: Asp358Ala) and four in introns (29753A>C, 42700T>C, 48869T>A and 59818C>T). The frequencies of each SNP in the Korean population (n=300) were 0.48 (-183 G>A), 0.13 (24013 G>A), 0.41 (29753A>C), 0.41 (42700T>C), 0.1 (48869T>A), 0.42 (48892A>C), and 0.07 (59818C>T), respectively. Haplotypes and their frequencies were estimated by the EM algorithm. Linkage disequilibrium coefficients (/D'/) between each SNP pair were also calculated. The information on SNPs and haplotypes in IL6R would be useful for genetic studies of this gene.
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., 11th Floor, Maehun B/D, 13 Chongro 4 Ga, Chongro Gu, Seoul, 110-834, Korea.
authors.forename: Lyoung Hyo
authors.initials: LH
authors.lastname: Kim
authors.forename: Hyo-Suk
authors.initials: HS
authors.lastname: Lee
authors.forename: Yoon Jun
authors.initials: YJ
authors.lastname: Kim
authors.forename: Ji Hyun
authors.initials: JH
authors.lastname: Jung
authors.forename: Jun Yeun
authors.initials: JY
authors.lastname: Kim
authors.forename: Byung Lae
authors.initials: BL
authors.lastname: Park
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Shin
mesh_terms: D002874:Chromosome Mapping / Q000379:methods; D005091:Exons / Q000235:genetics; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics; D019947:Receptors, Interleukin-6 / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D022821:RNA Splice Sites; D019947:Receptors, Interleukin-6