Background and Aims: Genetic variants in the gene SERPINC1 have been shown to be associated with antithrombin deficiency, which subsequently contributes to the susceptibility to venous thrombosis. However, several other studies have shown conflicting results regarding the association of SERPINC1 gene polymorphisms (rs2227589) with the risk of thrombosis. Hence, in the present study, we conducted a case-control study to further evaluate the association between the variant rs2227589 with antithrombin deficiency in pulmonary embolism (PTE). A pooled systematic analysis was also conducted to evaluate the risk of rs2227589 in venous thromboembolism (VTE) among multiple populations.Methods: This case-control study involved 101 patients and 199 healthy controls. The allele frequency of SERPINC1 variant rs2227589 was analyzed by Sequenom assay. Antithrombin anticoagulant activity was detected using an automatic coagulation analyzer. In addition, a pooled systematic analysis on 10 cohorts consisting of 5,518 patients with VTE and 8,935 controls was performed.Results: In total, 27 (26.7%) PTE subjects were diagnosed as having antithrombin deficiency. Our results showed that antithrombin plasma activity was slightly lower in T allele carriers than that in C allele carriers. However, there was no significant correlation between rs2227589 genotype and antithrombin anticoagulant activity. The recessive model showed that rs2227589 was significantly associated (p = 0.026) with an increased risk {odds ratio [OR]: 2.31, 95% confidence interval [CI] (1.09–4.89)} of Chinese PTE. The pooled systematic analysis of all case-control study and meta-analysis showed that rs2227589 polymorphism was associated with an increased risk of VTE in the additive model [OR: 1.09, 95% CI (1.01–1.18), P = 0.029] and dominant model [OR: 1.10, 95% CI (1.01–1.20), P = 0.034].Conclusions: Our study demonstrated that variant rs2227589 is associated with an increased risk of PTE in a Chinese population but no correlation with antithrombin anticoagulant activity. However, pooled systematic analysis of multiple populations showed a significant association between rs2227589 and the risk of VTE in the additive and dominant genetic model.
To assess the diagnostic value of circ-ANAPC7 expression levels in MDS and its risk stratification. This is a retrospective observational study. This study enrolled 125 patients diagnosed with MDS and divided them into five groups according to IPSS-R (very high group, 25; high group, 25; intermediate group, 25; low group, 25; and very low group, 25), and 25 patients with IDA were studied as control group from our bone marrow cell bank. Bone marrow cell were used as material in this study to measure the expression level of circ-ANAPC7 by qRT-PCR. An evaluation of diagnostic value was conducted using ROC curves. Circ-ANAPC7 expression levels were 5.623 ± 4.483, 28.396 ± 12.938, 91.867 ± 37.010, 202.525 ± 54.911, 337.633 ± 86.013, and 502.269 ± 98.410 from the control group to the very high group, respectively (p < 0.05). Circ-ANAPC7 expression was gradually upregulated with the risk stratification of MDS. The AUCs of circ-ANAPC7 were 0.973, 0.996, 0.951, 0.920, and 0.907 in the control group/very low group, very low group/low group, low group/intermediate group, intermediate group/high group, and high group/very high group, respectively. In this study, the expression level of circ-ANAPC7 was found to be a promising biomarker for MDS. It may be added to the scoring system to better identify risk groups.
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