title: The polymorphisms of T cell-specific TBX21 and STAT4 genes may contribute to the susceptibility of Chinese individuals to aplastic anemia.
abstract: T cell-specific T-box transcription factor gene (TBX21) and signal transducer and activator of transcription 4 (STAT4) have been suggested as 2 candidate genes for conferring susceptibility to autoimmunity. We herein hypothesized that the polymorphisms of TBX21 and STAT4 genes might contribute to the susceptibility of Chinese individuals to aplastic anemia (AA) as T cell-mediated immune disease characterized by hypoplasia and pancytopenia. We investigated the distributions of TBX21 (T-1993C and T-1514C) and STAT4 (rs7574862) polymorphisms in 202 adult patients with AA and 195 healthy controls by polymerase chain reaction-restriction fragment length polymorphism. The frequencies of T-1993C (but not T-1514C) genotype and allele distribution were significantly higher in AA patients than in controls. The T allele (TT + TG genotypes) of STAT4 variant rs7574865 was associated with increased susceptibility of Chinese people to AA. Our results indicated that single nucleotide polymorphisms in TBX21 and STAT4 might contribute to susceptibility to AA in the Chinese population.
authors: State Key Laboratory of Experimental Hematology, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Tianjin 300020, People's Republic of China.
authors: Meili
authors: M
authors: Ge
authors: Yizhou
authors: Y
authors: Zheng
authors: Xingxin
authors: X
authors: Li
authors: Jun
authors: J
authors: Shi
authors: Jing
authors: J
authors: Ge
authors: Huiyuan
authors: H
authors: Li
authors: Sizhou
authors: S
authors: Feng
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D000741:Anemia, Aplastic / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D050797:STAT4 Transcription Factor / Q000235:genetics*; D020825:T-Box Domain Proteins / Q000235:genetics*; D013601:T-Lymphocytes / Q000378:metabolism; D055815:Young Adult; D000098815:T-bet Transcription Factor
chemical_list: D050797:STAT4 Transcription Factor; D020825:T-Box Domain Proteins; D000098815:T-bet Transcription Factor