Interlukin‐27 rs153109 polymorphism confers the susceptibility and prognosis of aplastic anemia in Chinese population.

Introduction: Accumulating evidence has indicated that interleukin (IL)‐27 and its gene polymorphisms exert pivotal impact on several autoimmune disorders. This research intended to investigate the relationship between IL‐27 rs153109 polymorphism with risk and prognosis for aplastic anemia. Methods: IL‐27 rs153109 polymorphism was detected with polymerase chain reaction–ligase detection reaction in 238 patients with aplastic anemia and 215 normal individuals. Enzyme‐linked immunosorbent assays were applied to measure the plasma level of IL‐27. Results: Frequencies of rs153109 AA and GG genotype were statistically higher in aplastic anemia patients compared to controls. Similar results were observed when further divided patients into nonsevere and severe ones. That means carriers of AA and GG genotype are accompanied by an increased risk of developing aplastic anemia. Plasma IL‐27 levels of aplastic anemia patients were remarkably elevated than normal group and had positive relation with disease severity. Furthermore, patients with AA genotype had obviously higher IL‐27 levels than ones with AG and GG genotype. Moreover, patients carrying AA genotype exhibited a poorer reaction to immunosuppressive therapy and were more prone to clonal evolution. Conclusion: IL‐27 rs153109 polymorphism confers genetic predisposition to aplastic anemia and influences disease prognosis, potentially by regulating IL‐27 expression, which help broaden potential pathogenesis of aplastic anemia. Specifically, for patients with AA genotype, more aggressive therapeutic strategies such as hematopoietic stem cells transplantation are warranted. [ABSTRACT FROM AUTHOR]