Polymorphisms Of The TGF-?1 Gene And The Risk Of Acquired Aplastic Anemia In A Chinese Population

Objective:Acquired aplastic anemia(AA)is a hematological disease characterized by failure of bone marrow hematopoiesis resulting in pancytopenia.The etiological factors and mechanism ofAA are not clear yet.While immune-mediated destruction of haematopoietic stem/progenitor cells(HSPCs)plays a central role in the pathophysiology of acquired AA,the transforming growth factor-?1(TGF-?1)is crucial in adjusting theimmune system.The aim of our study was to investigate the role of TGF-?1 gene polymorphisms rs1800469 and rs2317130 in susceptibility to acquired AA.Methods:101 cases with acquired AA and 165 controls were gathered here.At the same time,we obtained the sex and age of all the subjects,and the clinical risk and the PNH(Paroxysmal Nocturnal Haemoglobinuria,PNH)clone of AA patients.After abstracting the DNA from peripheral blood of all subjects,we genotyped TGF-?1rs1800469 and rs2317130by SNaPshot method.Then we evaluated the association between polymorphisms of the TGF-?1gene and the risk of Acquired AA.Results:It drove us to the conclusion that the genotype TT ofrs 1800469(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%Cl=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.Conclusion:Our results indicated that TGF-?1 gene polymorphisms might be involved in the munity of acquired AA in a Chinese population.This initial analysis provides valuable clues for fturther study of TGF-?1 pathway genes in acquired AA.