title: Polymorphisms of the TGF-β1 gene and the risk of acquired aplastic anemia in a Chinese population.
abstract: Acquired aplastic anemia (AA) is a hematological disease characterized by failure of bone marrow hematopoiesis resulting in pancytopenia. While immune-mediated destruction of hematopoietic stem/progenitor cells (HSPCs) plays a central role in the pathophysiology of acquired AA, the transforming growth factor-β1 (TGF-β1) is crucial in adjusting the immune system. The aim of our study was to investigate the role of TGF-β1 gene polymorphisms rs1800469 and rs2317130 in susceptibility to acquired AA. Via the approach of SNaPshot, we genotyped rs1800469 and rs2317130 in 101 patients with acquired AA and 165 controls. It derived us to the conclusion that the genotype TT of rs1800469 (C/T) was significantly associated with decreased risk of acquired AA (adjusted OR = 0.39, 95% CI = 0.18-0.83, P = 0.014). Furthermore, this decreased risk was more pronounced among male patients (adjusted OR = 0.35, 95% CI = 0.13-0.95, P = 0.038) and SAA/vSAA (severe AA/very severe AA) patients (adjusted OR = 0.31, 95% CI = 0.12-0.77, P = 0.02) compared with controls in subgroup analysis. However, a significant increased risk was observed in the genotype distributions of rs2317130 for TT genotype (adjusted OR = 2.52, 95% CI = 1.03-6.19, P = 0.04) compared with the CC genotype among the SAA/vSAA patients and controls in the severity stratification analysis. Our results indicated that TGF-β1 gene polymorphisms might be involved in the munity of acquired AA in a Chinese population. This initial analysis provides valuable clues for further study of TGF-β1 pathway genes in acquired AA.
authors.affiliation: Department of Hematology and Oncology, Children's Hospital of Nanjing Medical University, Nanjing, China.
authors.forename: Xue-Hong
authors.initials: XH
authors.lastname: Liang
authors.affiliation: Department of Hematology and Oncology, Children's Hospital of Nanjing Medical University, Nanjing, China.
authors.forename: Liucheng
authors.initials: L
authors.lastname: Rong
authors.affiliation: Department of Hematology, Jiangsu Province Hospital/The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
authors.forename: Guangsheng
authors.initials: G
authors.lastname: He
authors.affiliation: Department of Hematology and Oncology, Soochow Children's Hospital Affiliated to Soochow University, Suzhou, China.
authors.forename: Hailong
authors.initials: H
authors.lastname: He
authors.affiliation: Department of Hematology, First Affiliated Hospital, Zhejiang Chinese Medical University, Hangzhou, China.
authors.forename: Shengyun
authors.initials: S
authors.lastname: Lin
authors.affiliation: Department of Hematology and Oncology, The First Hospital of Jilin University, Changchun, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Hematology and Oncology, Children's Hospital of Nanjing Medical University, Nanjing, China.
authors.forename: Yao
authors.initials: Y
authors.lastname: Xue
authors.affiliation: Department of Hematology and Oncology, Children's Hospital of Nanjing Medical University, Nanjing, China. fyj322@189.cn.
authors.forename: Yongjun
authors.initials: Y
authors.lastname: Fang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000741:Anemia, Aplastic / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011159:Population Surveillance; D012307:Risk Factors; D053773:Transforming Growth Factor beta1 / Q000235:genetics*; D055815:Young Adult
chemical_list: D053773:Transforming Growth Factor beta1
keywords: Acquired AA; Polymorphisms; Risk; TGF-β1 gene