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探讨缺血性脑卒中与内皮型一氧化氮合酶基因多态性[G894T、内含子 4VNTR 和 T786C]的关系。

Investigation of the relationship between ischemic stroke and endothelial nitric oxide synthase gene polymorphisms [G894T, intron 4 VNTR and T786C].

出版信息

Turk J Med Sci. 2019 Apr 18;49(2):589-594. doi: 10.3906/sag-1808-57.

DOI:10.3906/sag-1808-57
PMID:30997974
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7018372/
Abstract

BACKGROUND/AIM: We aimed to investigate the associations between endothelial nitric oxide synthase(eNOS) gene polymorphisms [G894T (rs1799983)], intron 4 (27-bpTR) variable number tandem repeat (VNTR) and T786C (rs2070744), and ischemic stroke in the Anatolian population.

MATERIALS AND METHODS

This case-control study included 112 patients with “stroke of undetermined etiology” and 160 controls. Real-time polymerase chain reaction (RT-PCR) analysis was used to analyze these polymorphisms. Between-group frequencies of alleles and genotypes were compared using binary logistic regression analysis.

RESULTS

No significant difference was observed between the two groups in terms of the genotype and allele distributions of the eNOS G894T (rs1799983) polymorphism (P > 0.05). The a alleles and the 4b/a and 4a/a genotypes of the intron 4 (27-bpTR) VNTR polymorphism had significantly higher frequencies in the patient group than in the control group (OR: 2.715, P < 0.001; OR: 3.396, P < 0.001; OR: 10.631, P = 0.016, respectively). On the contrary, the TC genotype and C alleles of the T786C (rs2070744) polymorphism had a significantly lower frequency in the patient group than in the control group (OR: 0.244, P < 0.001, OR: 0.605, P = 0.006, respectively)

CONCLUSION

Our findings indicate that the eNOS G894T and T786C [rs2070744] polymorphisms are not associated with the risk of ischemic stroke, whereas the intron 4 [27-bpTR] VNTR may be a risk factor in the Anatolian population.

摘要

背景/目的:我们旨在研究内皮型一氧化氮合酶(eNOS)基因多态性[G894T(rs1799983)、内含子 4(27-bpTR)可变数串联重复(VNTR)和 T786C(rs2070744)]与安纳托利亚人群缺血性卒中之间的关联。

材料与方法

本病例对照研究纳入了 112 例“病因不明性卒中”患者和 160 例对照。采用实时聚合酶链反应(RT-PCR)分析这些多态性。使用二项逻辑回归分析比较组间等位基因和基因型频率。

结果

eNOS G894T(rs1799983)多态性的基因型和等位基因分布在两组间无显著差异(P>0.05)。内含子 4(27-bpTR)VNTR 多态性的 a 等位基因和 4b/a 和 4a/a 基因型在患者组中的频率明显高于对照组(OR:2.715,P<0.001;OR:3.396,P<0.001;OR:10.631,P=0.016)。相反,T786C(rs2070744)多态性的 TC 基因型和 C 等位基因在患者组中的频率明显低于对照组(OR:0.244,P<0.001;OR:0.605,P=0.006)。

结论

我们的研究结果表明,eNOS G894T 和 T786C(rs2070744)多态性与缺血性卒中风险无关,而内含子 4(27-bpTR)VNTR 可能是安纳托利亚人群的一个风险因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab47/7018372/2db37a046668/turkjmedsci-49-589-fig001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab47/7018372/2db37a046668/turkjmedsci-49-589-fig001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab47/7018372/2db37a046668/turkjmedsci-49-589-fig001.jpg

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