title: The polymorphisms of T cell-specific TBX21 gene may contribute to the susceptibility of chronic immune thrombocytopenia in Chinese population.
abstract: Chronic primary immune thrombocytopenia (ITP) is an acquired autoimmune hemorrhagic disease characterized by both reduced platelet counts and suppression of megakaryocyte and platelet development. T cell-specific T-box transcription factor gene (TBX21) plays a critical role in the development and maintenance of T helper 1 (Th1) cells. Recently, several studies have confirmed that the T-1554C and T-1993C polymorphisms of this gene can influence its expression level and are associated with autoimmune diseases. Therefore, we speculated that TBX21 polymorphisms might be associated with the susceptibility of chronic ITP in Chinese population. We investigated the distributions of TBX21 (T-1514C and T-1993C) polymorphisms in 275 patients with chronic ITP and 261 healthy controls by polymerase chain reaction-restriction fragment length polymorphism. We observed significant overrepresentation of T allele and T/T genotype at T-1993C (but not T-1514C) in patients compared with controls. Stratified analysis by gender and age of disease onset revealed comparable observations in both female and childhood ITP cohorts. In conclusion, the T-1993C polymorphisms of TBX21 gene may be associated with the susceptibility of chronic primary ITP in Chinese population.
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 288 Nanjing Road, Tianjin 300020, China.
authors.forename: Donglei
authors.initials: D
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 288 Nanjing Road, Tianjin 300020, China.
authors.forename: Xian
authors.initials: X
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 288 Nanjing Road, Tianjin 300020, China.
authors.forename: Meili
authors.initials: M
authors.lastname: Ge
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 288 Nanjing Road, Tianjin 300020, China.
authors.forename: Min
authors.initials: M
authors.lastname: Xuan
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 288 Nanjing Road, Tianjin 300020, China.
authors.forename: Huiyuan
authors.initials: H
authors.lastname: Li
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 288 Nanjing Road, Tianjin 300020, China.
authors.forename: Yanhui
authors.initials: Y
authors.lastname: Yang
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 288 Nanjing Road, Tianjin 300020, China.
authors.forename: Rongfeng
authors.initials: R
authors.lastname: Fu
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 288 Nanjing Road, Tianjin 300020, China.
authors.forename: Fangfang
authors.initials: F
authors.lastname: Zhou
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 288 Nanjing Road, Tianjin 300020, China.
authors.forename: Yizhou
authors.initials: Y
authors.lastname: Zheng
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 288 Nanjing Road, Tianjin 300020, China. Electronic address: rcyang65@163.com.
authors.forename: Renchi
authors.initials: R
authors.lastname: Yang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002681:China; D002908:Chronic Disease; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000235:genetics / Q000276:immunology*; D020825:T-Box Domain Proteins / Q000235:genetics*; D018417:Th1 Cells / Q000276:immunology*; D055815:Young Adult; D000098815:T-bet Transcription Factor
chemical_list: D020825:T-Box Domain Proteins; D000098815:T-bet Transcription Factor