Kang Min Kyu, Kim Ok Joon, Jeon Young Joo, Kim Hyun Sook, Oh Seung Hun, Kim Jin Kwon, Kim Eo Jin, Hwang Tae Sun, Kim Nam Keun
Department of Biomedical Science, College of Life Science, CHA University, Republic of Korea.
Department of Neurology, School of Medicine, CHA University, Seongnam, Republic of Korea.
J Neurol Sci. 2014 Sep 15;344(1-2):55-9. doi: 10.1016/j.jns.2014.06.020. Epub 2014 Jun 18.
Endothelial nitric oxide synthase (eNOS) gene variants are known to play a role in atherosclerotic development. However, whether interplay between eNOS polymorphisms and metabolic syndrome (MetS) affects ischemic stroke (IS) risk has yet to be discovered. We investigated whether the combined effects of eNOS polymorphisms and MetS influence ischemic stroke risk in Koreans.
We genotyped the eNOS -922A>G, -786T>C, 4a4b, and 894G>T polymorphisms in 531 IS cases and 502 controls using polymerase chain reaction-amplified DNA. We then investigated whether the presence of MetS and the number of MetS risk factors worked with eNOS polymorphisms to influence IS risk.
IS patients had a significantly higher prevalence of MetS than controls [adjusted odds ratio (AOR)=2.943, 95% confidence interval (CI), 2.256-3.840, P<0.0001], and MetS prevalence did not differ between stroke subtypes. The 894GT+TT genotypes were positively associated with IS (AOR=1.670, 95% CI, 1.208-2.308, P=0.002), and the -786TC+CC genotypes showed co-morbidity with MetS (AOR=1.448, 95% CI, 1.401-2.015, P=0.028). Among subjects with three or more MetS risk factors, the highest AOR value (28.490, 95% CI, 3.162-256.688) was observed for the eNOS -786TC+CC genotypes.
The eNOS 894T allele and interplay between the eNOS -786C allele and MetS may predispose Koreans to IS.
已知内皮型一氧化氮合酶（eNOS）基因变异在动脉粥样硬化发展中起作用。然而，eNOS基因多态性与代谢综合征（MetS）之间的相互作用是否会影响缺血性卒中（IS）风险尚未明确。我们调查了eNOS基因多态性与MetS的联合作用是否会影响韩国人缺血性卒中的风险。
我们采用聚合酶链反应扩增DNA技术，对531例IS患者和502例对照者的eNOS -922A>G、-786T>C、4a4b和894G>T基因多态性进行基因分型。然后我们研究了MetS的存在情况以及MetS风险因素的数量是否与eNOS基因多态性共同作用来影响IS风险。
IS患者中MetS的患病率显著高于对照组[调整优势比（AOR）=2.943，95%置信区间（CI）为2.256 - 3.840，P<0.0001]，且卒中亚型之间MetS患病率无差异。894GT + TT基因型与IS呈正相关（AOR = 1.670，95% CI为1.208 - 2.308，P = 0.002），-786TC + CC基因型与MetS存在共病现象（AOR = 1.448，95% CI为1.401 - 2.015，P = 0.028）。在具有三个或更多MetS风险因素的受试者中，eNOS -786TC + CC基因型的AOR值最高（28.490，95% CI为3.162 - 256.688）。
eNOS 894T等位基因以及eNOS -786C等位基因与MetS之间的相互作用可能使韩国人易患IS。
