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ABO基因座第6和7外显子的多态性及其与巴西年轻患者静脉血栓形成的关联。

Polymorphisms in exons 6 and 7 of the ABO locus and their association with venous thrombosis in young Brazilian patients.

作者信息

Paiva Sabrina G, Sabino Adriano P, Carvalho Maria G, Ribeiro Daniel D, Gomes Karina B, Santos Mariana S, Oliveira Marina S, Lages Geralda G, Dusse Luci M S, Fernandes Ana Paula

机构信息

Faculty of Pharmacy, Federal University of Minas Gerais, Av. António Carlos 6627, Belo Horizonte, Minas Gerais, Brazil.

出版信息

Blood Coagul Fibrinolysis. 2009 Mar;20(2):122-8. doi: 10.1097/MBC.0b013e328323da99.

DOI:10.1097/MBC.0b013e328323da99
PMID:19786939
Abstract

The A1 and B alleles of the ABO blood system have been associated with high levels of both factor VIII and von Willebrand factor and with a predisposition to venous thromboembolism (VTE). In this study, genotypes of the ABO system were determined by PCR-restriction fragment length polymorphism for 148 young VTE Brazilian patients and 233 unrelated control individuals. The blood group O was more frequent among the controls [odds ratio (OR), 0.21; 95% confidence interval (CI), 0.13-0.34; P = 0.000) and groups A and B (OR, 2.24; 95%, CI, 1.46-3.42; P = 0.000 and OR, 2.52; 95% CI, 1.42-4.48; P = 0.002, respectively) among patients. The patients' group was under Hardy-Weinberg equilibrium, whereas the control group was not (P < 0.0051), suggesting that natural selection might be acting in favor of carriers of the O blood group. When the allelic frequencies were compared through multivariate logistic regression analysis for adjustments of covariates, the alleles A1 (OR, 1.69; 95% CI, 1.17-2.45; P = 0.006), A2 (OR, 2.19; 95% CI, 1.24-3.87; P = 0.010), and B (OR, 2.65; 95% CI, 1.64-4.26; P = 0.000) were independently associated with VTE and may represent important risk factors to the development of VTE among young Brazilian patients. Thus, the inclusion of ABO blood group determination may be helpful to discriminate individuals with high risk for VTE allowing target intervention as well as to manage VTE in young patients.

摘要

ABO血型系统的A1和B等位基因与较高水平的凝血因子VIII和血管性血友病因子相关,并且与静脉血栓栓塞(VTE)的易感性有关。在本研究中,通过聚合酶链反应-限制性片段长度多态性方法,对148名年轻的巴西VTE患者和233名无关对照个体进行了ABO系统基因型测定。对照组中O血型更为常见[比值比(OR),0.21;95%置信区间(CI),0.13 - 0.34;P = 0.000],而患者中A组和B组更为常见(OR分别为2.24;95% CI,1.46 - 3.42;P = 0.000和OR,2.52;95% CI,1.42 - 4.48;P = 0.002)。患者组处于哈迪-温伯格平衡,而对照组则不然(P < 0.0051),这表明自然选择可能有利于O血型携带者。当通过多变量逻辑回归分析比较等位基因频率以调整协变量时,等位基因A1(OR,1.69;95% CI,1.17 - 2.45;P = 0.006)、A2(OR,2.19;95% CI,1.24 - 3.87;P = 0.010)和B(OR,2.65;95% CI,1.64 - 4.26;P = 0.000)与VTE独立相关,并且可能是巴西年轻患者发生VTE的重要危险因素。因此,测定ABO血型可能有助于鉴别VTE高危个体,从而进行靶向干预以及管理年轻患者的VTE。

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