title: The TNF2 allele is a risk factor to severe aplastic anemia independent of HLA-DR.
abstract: Severe aplastic anemia (SAA) is a disease with an autoimmune component. The susceptibility to the development of SAA is strongly associated with genes in the major histocompatibility complex (MHC). The gene for tumor necrosis factor-alpha (TNF-alpha) is encoded in the MHC locus and TNF-alpha is involved in the pathogenesis of SAA. A TNF-alpha variant with a polymorphism at position -308 in its promoter region (-308A), which is designated TNF2, has been demonstrated to be linked to a number of autoimmune diseases. In this study, the TNF-alpha -308 promoter polymorphism and HLA-DRB1 alleles were analyzed in 75 SAA patients, 55 mild aplastic anemia patients (MAA), and 128 controls. In SAA the phenotype frequencies of TNF2, HLA-DR3, and -DR2 were significantly higher in comparison to controls. Stratification analysis confirmed that the TNF2 allele contributes to the susceptibility to SAA independently of HLA-DR3 or -DR2. The results indicated that TNF2 might act as an independent risk factor for SAA.
authors.affiliation: Department of Hematology, Qilu Hospital of Shandong University, P.R., Jinan, Shandong, China. junpeng88@sina.com.cn
authors.forename: Jun
authors.initials: J
authors.lastname: Peng
authors.forename: Chuanfang
authors.initials: C
authors.lastname: Liu
authors.forename: Kunli
authors.initials: K
authors.lastname: Zhu
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Zhu
authors.forename: Yuan
authors.initials: Y
authors.lastname: Yu
authors.forename: Jie
authors.initials: J
authors.lastname: Li
authors.forename: Ming
authors.initials: M
authors.lastname: Hou
authors.forename: Xueliang
authors.initials: X
authors.lastname: Chen
authors.forename: Conggao
authors.initials: C
authors.lastname: Xu
authors.forename: Maohong
authors.initials: M
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000741:Anemia, Aplastic / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D005260:Female; D020022:Genetic Predisposition to Disease; D006684:HLA-DR Antigens / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics* / Q000276:immunology
chemical_list: D006684:HLA-DR Antigens; D014409:Tumor Necrosis Factor-alpha