title: Stromal cell-derived factor-1 rs2297630 polymorphism associated with platelet production and treatment response in Chinese patients with chronic immune thrombocytopenia.
abstract: Stromal cell-derived factor-1 (SDF-1), signaling through CXCR4, is implicated in megakaryopoiesis and platelet production. SDF-1 rs2297630 is a functional polymorphism in linkage disequilibrium with other functional variants in SDF-1. This study aimed to investigate the role of SDF-1 rs2297630 in chronic ITP. The genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism and confirmed by direct sequencing. Immature platelet fraction (IPF) was performed using Sysmex XE-2100. Anti-platelet autoantibodies were assayed by enzyme-linked immunosorbent assay. The main characteristics at diagnosis and the outcome of chronic ITP in 201 Chinese patients were retrospectively reviewed. There was no significant difference in either genotype or allelic distribution between ITP patients and the controls (p = 0.114; p = 0.787). However, both heterozygote (GA) and homozygote minor allele (AA) patients had significantly increased megakaryocyte quantity compared to homozygote genotype (GG) patients at diagnosis (p = 0.011). The mean IPF values of GA and AA genotype patients were higher than those observed in the GG genotype patients when platelet counts ≤50 × 10(9)/L at diagnosis (p = 0.007). Patients with GA and AA genotype showed a higher response rate to standard treatments than patients with GG genotype (p < 0.001). In particular, GA and AA genotype patients had a significantly increased chance of responding to steroids, intravenous immunoglobulin (IVIG), and thrombopoietin analogs (p = 0.007; p = 0.029; p = 0.034, respectively). No significant difference was found between anti-platelet antibodies and genotypes (p = 0.296). In summary, the SDF-1 rs2297630 was associated with platelet production and treatment response in Chinese patients with chronic ITP.
authors.affiliation: a State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Disease Hospital , Chinese Academy of Medical Sciences & Peking Union Medical College , Tianjin , China.
authors.forename: Mingen
authors.initials: M
authors.lastname: Lyu
authors.affiliation: a State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Disease Hospital , Chinese Academy of Medical Sciences & Peking Union Medical College , Tianjin , China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Li
authors.affiliation: a State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Disease Hospital , Chinese Academy of Medical Sciences & Peking Union Medical College , Tianjin , China.
authors.forename: Yating
authors.initials: Y
authors.lastname: Hao
authors.affiliation: a State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Disease Hospital , Chinese Academy of Medical Sciences & Peking Union Medical College , Tianjin , China.
authors.forename: Tiantian
authors.initials: T
authors.lastname: Sun
authors.affiliation: a State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Disease Hospital , Chinese Academy of Medical Sciences & Peking Union Medical College , Tianjin , China.
authors.forename: Wenjie
authors.initials: W
authors.lastname: Liu
authors.affiliation: a State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Disease Hospital , Chinese Academy of Medical Sciences & Peking Union Medical College , Tianjin , China.
authors.forename: Cuicui
authors.initials: C
authors.lastname: Lyu
authors.affiliation: a State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Disease Hospital , Chinese Academy of Medical Sciences & Peking Union Medical College , Tianjin , China.
authors.forename: Rongfeng
authors.initials: R
authors.lastname: Fu
authors.affiliation: a State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Disease Hospital , Chinese Academy of Medical Sciences & Peking Union Medical College , Tianjin , China.
authors.forename: Huiyuan
authors.initials: H
authors.lastname: Li
authors.affiliation: a State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Disease Hospital , Chinese Academy of Medical Sciences & Peking Union Medical College , Tianjin , China.
authors.forename: Feng
authors.initials: F
authors.lastname: Xue
authors.affiliation: a State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Disease Hospital , Chinese Academy of Medical Sciences & Peking Union Medical College , Tianjin , China.
authors.forename: Xiaofan
authors.initials: X
authors.lastname: Liu
authors.affiliation: a State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Disease Hospital , Chinese Academy of Medical Sciences & Peking Union Medical College , Tianjin , China.
authors.forename: Lei
authors.initials: L
authors.lastname: Zhang
authors.affiliation: a State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Disease Hospital , Chinese Academy of Medical Sciences & Peking Union Medical College , Tianjin , China.
authors.forename: Renchi
authors.initials: R
authors.lastname: Yang
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001792:Blood Platelets; D016022:Case-Control Studies; D054377:Chemokine CXCL12 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D016756:Immunoglobulins, Intravenous; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007958:Leukocyte Count; D008297:Male; D008533:Megakaryocytes; D008875:Middle Aged; D010976:Platelet Count; D020641:Polymorphism, Single Nucleotide; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000097:blood* / Q000188:drug therapy / Q000235:genetics*; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D054377:Chemokine CXCL12; D016756:Immunoglobulins, Intravenous; D007166:Immunosuppressive Agents
keywords: Immature platelet fraction; immune thrombocytopenia; megakaryocyte; polymorphism; treatment