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印度南北不同族群中静脉和不明原因动脉卒中患者的凝血酶原G20210A基因多态性

Prothrombin G20210A polymorphism in patients with venous and cryptogenic arterial strokes among ethnic groups in south and north India.

作者信息

Salomi B S B, Christudass Christhunesa Soundararajan, Aaron Sanjith, Turaka Vijay Prakash

机构信息

Department of Neurological Sciences, Christian Medical College, Vellore 632004, Tamil Nadu, India.

Department of General Medicine, Christian Medical College, Vellore 632004, Tamil Nadu, India.

出版信息

Natl Med J India. 2019 Jul-Aug;32(4):213-215. doi: 10.4103/0970-258X.291290.

Abstract

BACKGROUND

Prothrombin (PT) G20210A is one of the genetic polymorphisms associated with thrombophilia. Studies show a low prevalence for this polymorphism in Asian populations with only one subject reported from India. We studied the prevalence and association of this polymorphism in patients with arterial and venous strokes and their matched controls in south and north India.

METHODS

We recruited patients with cerebral venous thrombosis (mean age 37.2 years) and cryptogenic ischaemic stroke (mean age 36.7 years), and age- and sex-matched controls (mean age 37.6 years) from south and north India. Genotyping was carried out using polymerase chain reaction followed by restriction fragment length polymorphism, and the prevalence of the variants among the patients and controls was compared.

RESULTS

The heterozygous allele of the polymorphism was detected in both groups with significantly higher prevalence among north Indians (5/154; 3.2%) compared with south Indians (4/516; 0.8%; p = 0.026). Thrombosis as a manifestation of this polymorphism was more among north Indians with 4/82 (4.9%) of patients with ischaemic stroke and cerebral venous thrombosis having this polymorphism compared with south Indian patients 1/72 (1.4%), p = 0.003.

CONCLUSION

PT G20210A is prevalent in India, especially among those from north India. Its role in predisposition to thrombosis needs to be studied further along with other known risk factors.

摘要

背景

凝血酶原(PT)G20210A是与易栓症相关的基因多态性之一。研究表明,这种多态性在亚洲人群中的患病率较低,印度仅报告了1例。我们研究了印度南部和北部动脉和静脉卒中患者及其匹配对照中这种多态性的患病率及相关性。

方法

我们从印度南部和北部招募了脑静脉血栓形成患者(平均年龄37.2岁)和隐源性缺血性卒中患者(平均年龄36.7岁),以及年龄和性别匹配的对照(平均年龄37.6岁)。采用聚合酶链反应继以限制性片段长度多态性进行基因分型,并比较患者和对照中变异体的患病率。

结果

两组均检测到该多态性的杂合等位基因,北印度人的患病率(5/154;3.2%)显著高于南印度人(4/516;0.8%;p = 0.026)。作为这种多态性表现的血栓形成在北印度人中更多见,缺血性卒中和脑静脉血栓形成患者中有4/82(4.9%)具有这种多态性,而南印度患者为1/72(1.4%),p = 0.003。

结论

PT G20210A在印度普遍存在,尤其是在来自印度北部的人群中。其在血栓形成易感性中的作用需要与其他已知危险因素一起进一步研究。

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