Yoo Seung Don, Park Jun Sang, Yun Dong Hwan, Kim Hee-Sang, Kim Su Kang, Kim Dong Hwan, Chon Jinmann, Je Goun, Kim Yoon-Seong, Chung Joo-Ho, Chung Seung Joon, Yeo Jin Ah
Department of Physical Medicine and Rehabilitaion, Kyung Hee University Medical Center, Seoul, Korea.
Kohwang Medical Research Institute, Kyung Hee University School of Medicine, Seoul, Korea.
Ann Rehabil Med. 2016 Feb;40(1):102-10. doi: 10.5535/arm.2016.40.1.102. Epub 2016 Feb 26.
To investigate whether four single nucleotide polymorphisms (SNPs) rs2293054 [Ile734Ile], rs1047735 [His902His], rs2293044 [Val1353Val], rs2682826 (3'UTR) of nitric oxide synthase 1 (NOS1) are associated with the development and clinical phenotypes of ischemic stroke.
We enrolled 120 ischemic stroke patients and 314 control subjects. Ischemic stroke patients were divided into subgroups according to the scores of the National Institutes of Health Stroke Survey (NIHSS, <6 and ≥6) and Modified Barthel Index (MBI, <60 and ≥60). SNPStats, SNPAnalyzer, and HelixTree programs were used to calculate odds ratios (ORs), 95% confidence intervals (CIs), and p-values. Multiple logistic regression models were performed to analyze genetic data.
No SNPs of the NOS1 gene were found to be associated with ischemic stroke. However, in an analysis of clinical phenotypes, we found that rs2293054 was associated with the NIHSS scores of ischemic stroke patients in codominant (p=0.019), dominant (p=0.007), overdominant (p=0.033), and log-additive (p=0.0048) models. Also, rs2682826 revealed a significant association in the recessive model (p=0.034). In allele frequency analysis, we also found that the T alleles of rs2293054 were associated with lower NIHSS scores (p=0.007). Respectively, rs2293054 had a significant association in the MBI scores of ischemic stroke in codominant (p=0.038), dominant (p=0.031), overdominant (p=0.045), and log-additive (p=0.04) models.
These results suggest that NOS1 may be related to the clinical phenotypes of ischemic stroke in Korean population.
研究一氧化氮合酶1（NOS1）的4个单核苷酸多态性（SNP）rs2293054 [Ile734Ile]、rs1047735 [His902His]、rs2293044 [Val1353Val]、rs2682826（3'非翻译区）是否与缺血性脑卒中的发生及临床表型相关。
我们纳入了120例缺血性脑卒中患者和314例对照者。缺血性脑卒中患者根据美国国立卫生研究院卒中量表（NIHSS，<6分和≥6分）及改良巴氏指数（MBI，<60分和≥60分）进行分组。使用SNPStats、SNPAnalyzer和HelixTree程序计算比值比（OR）、95%置信区间（CI）和p值。采用多因素logistic回归模型分析遗传数据。
未发现NOS1基因的SNP与缺血性脑卒中相关。然而，在临床表型分析中，我们发现rs2293054在共显性（p = 0.019）、显性（p = 0.007）、超显性（p = 0.033）和对数加性（p = 0.0048）模型中与缺血性脑卒中患者的NIHSS评分相关。此外，rs2682826在隐性模型中显示出显著相关性（p = 0.034）。在等位基因频率分析中，我们还发现rs2293054的T等位基因与较低的NIHSS评分相关（p = 0.007）。rs2293054在共显性（p = 0.038）、显性（p = 0.031）、超显性（p = 0.045）和对数加性（p = 0.04）模型中与缺血性脑卒中的MBI评分也有显著相关性。
这些结果表明，在韩国人群中，NOS1可能与缺血性脑卒中的临床表型有关。
