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.