【摘要】 目的 探讨融合抑制(SUFU)基因多态性与地中海贫血(TM)患儿接受异基因造血干细胞移植(allo-HSCT)后发生移植物抗宿主病(GVHD)之间的关系。方法 选择2018年10月1日至2020年12月31日厦门大学附属中山医院接收的44例接受allo-HSCT的TM患儿作为研究对象，经SUFU rs17114808位点基因多态性检测，比较不同基因型患儿的临床资料，记录GVHD的发生率和严重程度，并分析SUFU基因型与移植后发生GVHD的关系。结果 44例TM移植患儿中，SUFU基因位点(rs17114808)CC、CT、TT的基因型发生率分别为29.55%、52.27%、18.18%。CC型组和CT/TT型组性别、移植年龄、供受者关系、人类白细胞抗原匹配程度、末次随访存活率比较，差异无统计学意义(P>0.05)。移植后CC型组急性GVHD(aGVHD)和慢性GVHD(cGVHD)的发生率均高于CT/TT型组，但差异无统计学意义(P>0.05)。多因素logistic回归分析显示，携带CC基因型对Ⅱ～Ⅳ度aGVHD的发生有影响(OR=6.601,P<0.05)。两组基因型cGVHD累及器官范围及受累器官类型比较，差异无统计学意义(P>0.05)。结论 SUFU基因CC型可能与TM患儿移植后发生严重aGVHD有关，可作为预测发生Ⅱ～Ⅳ度aGVHD的指标。更多还原

【Abstract】 Objective To explore the impact of SUFU polymorphism on graft-versus-host disease(GVHD) after allogeneic hematopoietic stem cell transplantation(allo-HSCT)in children with thalassemia.Methods From October 1 st 2018 to December 31 st 2018, forty-four children with thalassemia received allo-HSCT in Zhongshan Hospital of Xiamen University were selected as the research objects. The clinical data of children with different genotypes were compared according to gene polymorphism at RS17114808 locus in SUFU gene. The frequency and severity of GVHD after transplantation were recorded, and the relationship between SUFU genotypes and GVHD was analyzed.Results The frequency of CC,CT and TT genotype at SUFU rs17114808 among 44 children with thalassemia was 29.55%, 52.27% and 18.18%, respectively. There were no statistical differences in gender, transplantation age, donor-recipient relationship, human leukocyte antigen mismatches and survival at the last follow-up between CC and CT/TT groups(P>0.05). The incidence of acute GVHD(aGVHD) and chronic GVHD(cGVHD) in the CC group was higher than that in the CT/TT group, but there was no statistical difference between the two groups(P>0.05). In multivariate logistic regression analysis, carrying CC genotype was found to significantly contribute to the development of grade Ⅱ-Ⅳ aGVHD(OR=6.601, P<0.05). There was no statistical difference between the two groups in the extent and type of the involved organs of genotype cGVHD(P>0.05).Conclusion The CC genotype of SUFU may be associated with severe aGVHD after transplantation in children with thalassemia, which can serve as a indicator to predict the occurrence of gradeⅡ-Ⅳ aGVHD.更多还原