Single Nucleotide Polymorphisms in the 5'-Upstream Sequence of Chemokine Like Factor and their Association with Asthma / 中国呼吸与危重监护杂志

ABSTRACT

Objective To detect the single nucleotide polymorphisms (SNPs) in the upstream promoter region of chemokine like factor (CKLF) gene and analyze their possible associations with asthma and asthma-related phenotypes.Methods Direct Sequence of the 1553bp upstream promoter region of CKLF gene was performed in 245 Chinese Han human genomic DNAs (119 asthmatics and 126 controls).The frequencies of alleles, genotypes, and haplotypes were determined and the association of these SNPs with asthmawere further analyzed.Results Fournovel SNPs,SNP88 (T>C),SNPI96 (T>C),SNP568 (C> G) ,and SNP1047 (C > G) were found in the promoter region of CKLF.The frequency of rare allele was 0.168 (SNP88C), 0.168 (SNP196C), 0.352 (SNP568G) and 0.167 (SNP1047G), respectively.Haplotypes,their frequencies and the linkage disequilibrium coefficients between SNPs were constructed.Complete linkage disequilibrium (LDs) were observed between SNP88 and SNP196,SNP88 and SNP1047, as well as SNPI96 and SNP1047 ,respectively (D1 = 1.000,r2 = 1.000).SNP568 was in partial LD with the other three SNPs (r2 = 0.366).No association between asthma and the SNPs was observed.Conclusions Four SNPs in the regulatory region of CKLF in Chinese Han population were firstly identified.Although no significant correlation with asthma was revealed, the SNP and haplotype information is useful for other disease association studies in the future.