The TNF2 allele is a risk factor to severe aplastic anemia independent of HLA-DR.
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.
Peng
Jun
J
Department of Hematology, Qilu Hospital of Shandong University, P.R., Jinan, Shandong, China. junpeng88@sina.com.cn
Liu
Chuanfang
C
Zhu
Kunli
K
Zhu
Yuanyuan
Y
Yu
Yuan
Y
Li
Jie
J
Hou
Ming
M
Chen
Xueliang
X
Xu
Conggao
C
Zhang
Maohong
M
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
D006684:HLA-DR Antigens; D014409:Tumor Necrosis Factor-alpha