PON1、ABCB1基因多态性在急性轻型脑卒中患者中的分布及其对短期预后的影响
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(1.新疆医科大学第一附属医院神经内科,新疆乌鲁木齐市 830054;2.新疆医科大学第一附属医院药学部,新疆乌鲁木齐市 830054)

作者简介:

马梦佳,硕士研究生,研究方向为脑卒中与精准医疗,E-mail为mengjia.ma@outlook.com。通信作者马建华,博士,主任医师,硕士研究生导师,研究方向为脑卒中与精准医疗,E-mail为mjh9191@163.com。

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国家重点研发计划项目(2017YFC0910001)


Distribution of PON1, ABCB1 polymorphisms and its effect on short-term prognosis in acute minor stroke patients
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1.Department of Neurology, the First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, China;2.Department of Pharmacy, the First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, China)

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    摘要:

    目的 研究急性轻型脑卒中患者PON1 rs662、ABCB1 rs1045642位点的基因型分布情况,及其对短期预后的影响。方法 纳入2018年9月—2019年6月在新疆医科大学第一附属医院神经内科住院治疗的急性轻型脑卒中患者,治疗上采用阿司匹林100 mg/d加氯吡格雷75 mg/d治疗21天后改为长期服用氯吡格雷75 mg/d;采用数字荧光分子杂交法检测PON1 rs662、ABCB1 rs1045642位点的基因型,并分别于出院后3个月、6个月随访有无复发(卒中、短暂性脑缺血发作),研究上述基因多态性在男性与女性、维吾尔族与汉族、大动脉粥样硬化型与小动脉闭塞型之间的分布及对短期预后的影响。结果 在纳入150例轻型脑卒中患者中,ABCB1 rs1045642各基因型在维汉之间存在分布差异,汉族与维吾尔族ABCB1基因型分布主要以突变杂合型(CT)为主,汉族人群中突变纯合型(TT)较少(9.3%),而维吾尔族人群中突变纯合型较多(42.8%)。经3个月随访后,150例患者中共7例患者再发缺血事件,其中再发短暂性脑缺血发作的患者5例,缺血性脑卒中2例,尚不能认为PON1及ABCB1突变纯合型脑卒中后3个月的复发风险增加。经6个月随访后,124例患者中共21例患者发生终点事件,其中再发短暂性脑缺血发作的患者14例,再发缺血性脑卒中的患者7例,PON1突变纯合型较野生型及突变杂合型脑卒中后6个月的复发风险增加(OR=3.4,5%CI 1.384~10.404,P=0.016),PON1突变纯合型为卒中后6个月复发的危险因素,尚不能认为ABCB1突变纯合型脑卒中后6个月的复发风险增加。结论 ABCB1 rs1045642各基因型在维汉之间存在分布差异,维吾尔族人群中突变纯合型(TT)较多;PON1突变型缺血事件复发率高,是急性轻型脑卒中患者6个月后复发的危险因素。

    Abstract:

    Aim To study the genotype distribution of PON1 rs662, ABCB1 rs1045642 in patients with acute minor stroke, and its effect on short-term prognosis. Methods Acute minor stroke patients were included who were admitted to the Department of Neurology, the First Affiliated Hospital of Xinjiang Medical University from September 2018 to June 2019. The genotypes of PON1 rs662 and ABCB1 rs1045642 were detected by digital fluorescence molecular hybridization, and the stroke recurrence were evaluated by follow-up after 3 months and 6 months respectively. The association between these gene polymorphism and stroke recurrence was also investigated. Results There was a difference in the distribution of ABCB1 rs1045642 genotypes among different races. There were more mutant homozygous types in Uygur population (42.8%). After 3 months follow-up, a total of 7 of the 150 patients had terminal events, including 5 patients with transient ischemic attack (TIA) and 2 patients with recurrent ischemic stroke. The risk of recurrence at 3 months after stroke with PON1 and ABCB1 homozygous mutations was not yet considered to be increased. After 6 months follow-up, a total of 21 of the 124 patients had endpoint events, including 14 patients with recurrent TIA and 7 patients with recurrent ischemic stroke. PON1 mutant type had a higher recurrence rate than the wild type and mutant heterozygous type after 6 months(OR=3.4,5%CI 1.384~10.404, P=0.016). Conclusion The distribution of each genotype of ABCB1 rs1045642 is different between Uyghur and Han, and there are more mutant homozygous (TT) genotypes in Uyghur population. PON1 mutation has a high recurrence rate of ischemic events, which is a risk factor for recurrence 6 months after acute minor stroke.

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马梦佳,赵军,袁圆,马建华. PON1、ABCB1基因多态性在急性轻型脑卒中患者中的分布及其对短期预后的影响[J].中国动脉硬化杂志,2021,29(3):247~253.

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  • 收稿日期:2020-04-01
  • 最后修改日期:2020-08-08
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  • 在线发布日期: 2021-03-02