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Racial differences in protein S Tokushima and two protein C variants as genetic risk factors for venous thromboembolism

机译:蛋白质S Tokushima的种族差异和两种蛋白C变种作为静脉血栓栓塞的遗传危险因素

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Background Racial differences in genetic risk factors for venous thromboembolism (VTE) are elucidated, with factor V Leiden and prothrombin G20210A being prevalent among the Caucasian population but rare among non‐Caucasians. Objectives To assess the worldwide distribution of three gene polymorphisms previously identified as genetic risk factors among East Asian subpopulations: protein S (PS) Tokushima (p.Lys196Glu), protein C (PC) p.Arg189Trp, and PC p.Lys193del. Methods An international collaborative study group of seven centers in five countries—Japan, South Korea, Singapore, Hungary, and Brazil—was created, and genotype analyses were performed. A total of 2850 unrelated individuals (1061 patients with VTE and 1789 controls) were included. Results PS Tokushima was confined to Japanese patients with VTE (allele frequency, 2.35%) and controls (1.12%), with an odds ratio (OR) of 2.15 (95% confidence interval, 1.16‐3.99). PC p.Arg189Trp carriers were prevalent among Chinese and Malay patients with VTE in Singapore, with allele frequencies of 10.53% and 22.73%, respectively. Carriers of PC p.Lys193del were identified among Japanese and Korean patients with VTE (0.87% and 2.35%, respectively) and controls (0.36% and 1.07%, respectively), with the OR for VTE not being significant, and Chinese patients with VTE in Singapore (5.26%). In contrast, no carriers of PS Tokushima and two PC gene variants were found among patients with VTE or controls from Hungary, Brazil, or Indians in Singapore. Conclusion The three variants were prevalent among East and Southeast Asians, having some differences in geographic distribution, but were absent among Caucasian subpopulations and Brazilians.
机译:背景技术静脉血栓栓塞(VTE)遗传危险因素的种族差异被阐明,具有因子V leiden和凝血酶原G20210A在白种人人群中普遍存在,但非高加索人群罕见。目的评估以前鉴定为东亚群体中的三种基因多态性的全球分布:蛋白质S(PS)Tokushima(P.Lys196Glu),蛋白C(PC)P.Arg189TRP和PC P.Lys193del。方法采用国际合作研究组 - 日本,韩国,新加坡,匈牙利和匈牙利和巴西 - 进行了创造的七个中心,并进行了基因型分析。共有2850名无关的个人(1061名VTE和1789名控制患者)。结果PS Tokushima仅限于日本患有VTE(等位基因频率,2.35%)和对照(1.12%)的日本患者,其可能性比率(或)为2.15(95%置信区间,1.16-3.99)。 PC P.ARG189TRP载体在新加坡中的中文和马来患者中普遍存在,等位基因频率分别为10.53%和22.73%。 PC P.Lys193del的载体是在日语和韩国血统患者(分别为0.87%和2.35%)和对照(分别为0.36%和1.07%)的患者,或者与VTE没有重要,中国患者VTE在新加坡(5.26%)。相比之下,在新加坡匈牙利,巴西或印度人的VTE或控制患者中发现了PS Tokushima和两种PC基因变异的载体。结论东南亚洲人的三种变种普遍存在地区分布的差异,但在高加索群和巴西人中缺席。

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