title: TNF-α promoter single nucleotide polymorphisms and haplotypes associate with susceptibility of immune thrombocytopenia in Chinese adults.
abstract: OBJECTIVE
  Tumor necrosis factor-alpha (TNF-α) participates as a candidate susceptibility factor for immune thrombocytopenia (ITP). This study attempted to investigate the association between five single nucleotide polymorphisms (SNPs) spanning the TNF-α promoter and the susceptibility of primary ITP in Chinese Han adults.
  
  
  METHODS
  In 215 adult primary ITP patients and 206 healthy controls, SNPs were detected by PCR-RFLP and PCR-SSP. The χ(2) test or fisher's exact test was used to compare frequencies of genotypes and alleles between patients and controls. Haplotypes were analyzed with the SHEsis online program. TNF-α, IFN-γ and Galectin-9 mRNA of 35 newly diagnosed adult ITP patients and 35 healthy controls were detected by qRT-PCR.
  
  
  RESULTS
  The haplotype GGC (-238G/-308G/-857C) of TNF-α promoter was significantly associated with a decreased susceptibility of primary ITP, especially in males. The relative levels of mRNA expression of TNF-α, IFN-γ and Gal-9 in adult active primary ITP patients was significantly up-regulated compared with patients in remission and controls.
  
  
  CONCLUSIONS
  This study represented the first report that the haplotype GGC of TNF-α was differentially associated with the susceptibility of primary ITP in Chinese Han adults. The up-regulation of TNF-α, IFN-γ and Galectin-9 was significantly correlated with active primary ITP in adult patients.
authors.affiliation: Department of Clinical Laboratory Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, PR China.
authors.forename: Ning
authors.initials: N
authors.lastname: Wang
authors.affiliation: Department of Transfusion, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, PR China.
authors.forename: Gui Ning
authors.initials: GN
authors.lastname: Li
authors.affiliation: Department of Clinical Laboratory Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, PR China.
authors.forename: Xiao Bei
authors.initials: XB
authors.lastname: Wang
authors.affiliation: Department of Clinical Laboratory Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, PR China.
authors.forename: Tao
authors.initials: T
authors.lastname: Liang
authors.affiliation: Department of Clinical Laboratory Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, PR China. Electronic address: lihuahu@live.cn.
authors.forename: Lihua
authors.initials: L
authors.lastname: Hu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China; D017931:DNA Primers; D005260:Female; D037161:Galectins; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007371:Interferon-gamma / Q000235:genetics; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics*; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000208:ethnology / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012737:Sex Factors; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*; D055815:Young Adult
chemical_list: D017931:DNA Primers; D037161:Galectins; C105032:LGALS9 protein, human; D014409:Tumor Necrosis Factor-alpha; D007371:Interferon-gamma
keywords: Autoimmunity; Immune thrombocytopenia; Immunogenetics; Single nucleotide polymorphism; Tumor necrosis factor-alpha