title: Polymorphism of Nitric Oxide Synthase 1 Affects the Clinical Phenotypes of Ischemic Stroke in Korean Population.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  These results suggest that NOS1 may be related to the clinical phenotypes of ischemic stroke in Korean population.
authors.affiliation: Department of Physical Medicine and Rehabilitaion, Kyung Hee University Medical Center, Seoul, Korea.
authors.forename: Seung Don
authors.initials: SD
authors.lastname: Yoo
authors.affiliation: Department of Physical Medicine and Rehabilitaion, Kyung Hee University Medical Center, Seoul, Korea.
authors.forename: Jun Sang
authors.initials: JS
authors.lastname: Park
authors.affiliation: Department of Physical Medicine and Rehabilitaion, Kyung Hee University Medical Center, Seoul, Korea.
authors.forename: Dong Hwan
authors.initials: DH
authors.lastname: Yun
authors.affiliation: Department of Physical Medicine and Rehabilitaion, Kyung Hee University Medical Center, Seoul, Korea.
authors.forename: Hee-Sang
authors.initials: HS
authors.lastname: Kim
authors.affiliation: Kohwang Medical Research Institute, Kyung Hee University School of Medicine, Seoul, Korea.
authors.forename: Su Kang
authors.initials: SK
authors.lastname: Kim
authors.affiliation: Department of Physical Medicine and Rehabilitaion, Kyung Hee University Medical Center, Seoul, Korea.
authors.forename: Dong Hwan
authors.initials: DH
authors.lastname: Kim
authors.affiliation: Department of Physical Medicine and Rehabilitaion, Kyung Hee University Medical Center, Seoul, Korea.
authors.forename: Jinmann
authors.initials: J
authors.lastname: Chon
authors.affiliation: Department of Physical Medicine and Rehabilitaion, Kyung Hee University Medical Center, Seoul, Korea.; Burnett School of Biomedical Sciences, University of Central Florida College of Medicine, Orlando, FL, USA.
authors.forename: Goun
authors.initials: G
authors.lastname: Je
authors.affiliation: Burnett School of Biomedical Sciences, University of Central Florida College of Medicine, Orlando, FL, USA.
authors.forename: Yoon-Seong
authors.initials: YS
authors.lastname: Kim
authors.affiliation: Kohwang Medical Research Institute, Kyung Hee University School of Medicine, Seoul, Korea.
authors.forename: Joo-Ho
authors.initials: JH
authors.lastname: Chung
authors.affiliation: Department of Physical Medicine and Rehabilitaion, Kyung Hee University Medical Center, Seoul, Korea.
authors.forename: Seung Joon
authors.initials: SJ
authors.lastname: Chung
authors.affiliation: Department of Physical Medicine and Rehabilitaion, Kyung Hee University Medical Center, Seoul, Korea.
authors.forename: Jin Ah
authors.initials: JA
authors.lastname: Yeo
keywords: Ischemic stroke; Modified Barthel Index; National Institutes of Health Stroke Survey; Nitric oxide synthase 1; Polymorphism