Polymorphism of Apoprotein E (APOE), Methylenetetrahydrofolate Reductase (MTHFR) and Paraoxonase (PON1) Genes in Patients with Cerebrovascular Disease

Polymorphism of Apoprotein E (APOE), Methylenetetrahydrofolate Reductase (MTHFR) and Paraoxonase (PON1) Genes in Patients with Cerebrovascular Disease
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脑血管病患者载脂蛋白E(APOE)、亚甲基四氢叶酸还原酶(MTHFR)和对氧磷酶(PON1)基因多态性

DOI:
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发表时间:
2001
影响因子:
6.8
通讯作者:
I. Žuntar
I. Žuntar
中科院分区:
医学2区
文献类型:
--
作者:
E. Topić;A. Šimundić;M. Štefanović;V. Demarin;V. Vukovic;A. Lovrenčić‐Huzjan;I. Žuntar

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载脂蛋白E(APOE)、亚甲基四氢叶酸(MTHFR)和对氧磷酶(PON 1)基因多态性的研究结果表明,它们在脑血管病的发生发展中起着重要作用。本研究的目的是评估56例脑卒中患者和36例颈动脉狭窄患者的APOE、MTHFR和PON 1基因多态性与124例对照组的相关性。在脑卒中组中,MTHFR基因型分布(p=0.004,T/T比值比为17.571),但APOE和PON 1等位基因和基因型分布与对照组相比无显著性差异,颈动脉狭窄组APOE等位基因和基因型分布与对照组相比有显著性差异(p=0.023,比值比APOE ≥ 3 ≤ 4为4.24),但MTHFR和PON 1等位基因和基因型分布与对照组无显著差异。本研究获得的初步结果显示MTHFR和APOE基因多态性与脑血管疾病相关,提示T等位基因纯合子受试者中风的显著风险和APOE β 3 β 4基因型受试者颈动脉狭窄的显著风险。需要在更大的患者群体中进行更多的研究来证实这些观察结果。
Abstract Although controversial, data on the genetic polymorphism of apoprotein E (APOE), methylenetetrahydrofolate (MTHFR) and paraoxonase (PON1) genes implicate their role in the development of cerebrovascular disease. The aim of this study was to assess the association of polymorphism of APOE, MTHFR and PON1 genes in 56 stroke and 36 carotid stenosis patients, and in 124 control subjects by PCR-restriction fragment length polymorphism analysis. In the stroke group a significantly different MTHFR genotype distribution (p=0.004, odds ratio for T/T of 17.571), but no significant difference in APOE and PON1 allele and genotype distribution compared to the control was found. The carotid stenosis group exhibited a significantly different APOE allele and genotype distribution (p=0.023, odds ratio APOE∊3∊4 of 4.24), but no significant difference in the MTHFR and PON1 allele and genotype distribution from the control group. The preliminary results obtained in this study revealed an association of the MTHFR and APOE gene polymorphism with cerebrovascular disease, suggesting a significant risk for stroke in subjects who are homozygous for the T allele and for carotid stenosis in subjects having APOE∊3∊4 genotype. Additional studies in larger patient groups are needed to confirm these observations.
DOI: 10.1056/nejm199502023320502
发表时间: 1995-02-02
影响因子: 158.5
作者:
SELHUB, J;JACQUES, PF;ROSENBERG, IH
通讯作者: ROSENBERG, IH
DOI: --
发表时间: 1990-03
影响因子: 6.5
作者:
J. Hixson;D. T. Vernier
通讯作者: J. Hixson;D. T. Vernier
DOI: 10.1016/0026-0495(94)90004-3
发表时间: 1994-12-01
影响因子: 9.8
作者:
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通讯作者: ESKES, TKAB