title: Studies on correlation between single-nucleotide polymorphisms of tumor necrosis factor gene and different stages of ankylosing spondylitis.
abstract: To examine if there is any correlation between ankylosing spondylitis (AS) and TNF-α gene promoter single-nucleotide polymorphisms (SNP) and their associated haplotypes. Using restriction fragment length polymorphism-polymerase chain reaction method, the polymorphism of TNF-α-238, -308, -850, -857, -863 locus, and TNF-β +252 were analyzed in patients with progressive AS, stable AS and control. (1) Neither the genotypes nor the allele frequencies of TNF-α (-308), (-238), (-863), and TNF-β +252 showed differences in each group. TNF-α (-850) CC genotype and C allele frequency distribution was significantly higher in healthy controls group than in the stable and progressive groups. TNF-α (-857) CT, CC genotype, and C, T allele frequency showed differences in all groups. (2) Polymorphism linkage equilibrium test revealed that association of six TNF-α, β gene SNPs with haplotype GACTCG in progressive group is significantly higher than in the stable group and healthy control group (P < 0.05). TNF-α (-857), (-850) gene polymorphism may increase the susceptibility to AS, but do not reflect the disease active state. The CC genotype and C allele may play a protective role in the pathogenesis of AS. TNF-α (-308) may be a weak indicator reflecting the active state of AS. Haplotype GACTCG may indicate both the susceptibility and the activity of AS.
authors.affiliation: Department of Oncology, The First Affiliated Hospital of Xinxiang Medical University, Weihui, Xinxiang, China.
authors.forename: Yinghua
authors.initials: Y
authors.lastname: Ji
authors.forename: Xiaoyu
authors.initials: X
authors.lastname: Yang
authors.forename: Lin
authors.initials: L
authors.lastname: Yang
authors.forename: Dapeng
authors.initials: D
authors.lastname: Wu
authors.forename: Fangfang
authors.initials: F
authors.lastname: Hua
authors.forename: Tan
authors.initials: T
authors.lastname: Lu
authors.forename: Jinling
authors.initials: J
authors.lastname: Jia
authors.forename: Chao
authors.initials: C
authors.lastname: Ma
authors.forename: Qiudong
authors.initials: Q
authors.lastname: Liang
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008233:Lymphotoxin-alpha / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012720:Severity of Illness Index; D013167:Spondylitis, Ankylosing / Q000235:genetics* / Q000473:pathology; D014409:Tumor Necrosis Factor-alpha / Q000097:blood / Q000235:genetics*; D055815:Young Adult
chemical_list: D008233:Lymphotoxin-alpha; D014409:Tumor Necrosis Factor-alpha