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자료유형
학술저널
저자정보
Kang, Sung-Wook (Kohwang Medical Research Institute, School of Medicine, Kyung Hee University) Chung, Joo-Ho (Kohwang Medical Research Institute, School of Medicine, Kyung Hee University) Kim, Dong-Hwan (Department of Physical Medicine & Rehabilitation, School of Medicine, Kyung Hee University) Yun, Dong-Hwan (Department of Physical Medicine & Rehabilitation, School of Medicine, Kyung Hee University) Yoo, Seung-Don (Department of Physical Medicine & Rehabilitation, School of Medicine, Kyung Hee University) Kim, Hee-Sang (Department of Physical Medicine & Rehabilitation, School of Medicine, Kyung Hee University) Seo, Wan (Department of Biochemistry and Molecular Biology, School of Medicine, Kyung Hee University) Yoon, Jee-Sang (Department of Biochemistry and Molecular Biology, School of Medicine, Kyung Hee University) Baik, Hyung-Hwan (Department of Biochemistry and Molecular Biology, School of Medicine, Kyung Hee University)
저널정보
한국유전체학회 Genomics & informatics Genomics & informatics 제8권 제4호
발행연도
2010.1
수록면
206 - 211 (6page)

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The Fas (TNF receptor superfamily, member 6) (FAS)/FAS ligand (FASLG) interaction plays a central role in the regulation of programmed cell death. FAS and FASLG polymorphisms in promoter regions affect transcriptional activities. To investigate whether FAS and FASLG polymorphisms are associated with the development and clinical phenotypes of stroke, 2 promoter single nucleotide polymorphisms (SNPs) in FAS (rs1800682, -670C/T) and FASLG (rs763110, -844C/T) were selected and genotyped by direct sequencing in 220 stroke patients [107 ischemic stroke (IS), 77 intracerebral hemorrhage (ICH), and 36 subarachnoid hemorrhage (SAH)] and 369 control subjects. For the analysis of clinical symptoms, all stroke patients were divided into 3 clinical phenotypes according to the respective results of the National Institutes of Health Stroke Survey (NIHSS) and the Modified Barthel Index (MBI) and the presence or absence of complex regional pain syndrome (CRPS). The SNPStats, SNPAnalyzer, and Helixtree programs were used to analyze the genetic data. Multiple logistic regression models (codominant, dominant, and recessive) were used to estimate odds ratios (ORs), 95% confidence intervals (CIs), and p-values. The promoter SNP rs1800682 was associated with stroke in the codominant (OR=0.48, 95% CI=0.25-0.94, p=0.04) and dominant models (OR=0.51, 95% CI=0.30-0.87, p=0.011). However, a FASLG SNP (rs763110) was not in Hardy-Weinberg equilibrium (p<0.05). In the analysis of stroke types, rs1800682 was associated with IS in the codominant (OR=0.30, 95% CI=0.12-0.74, p=0.025), dominant (OR=0.44, 95% CI=0.23-0.88, p=0.018), and recessive models (OR=0.45, 95% CI=0.21-0.99, p=0.042). The genotype frequencies of rs1800682 were different between ICH and controls in the dominant model (OR=0.49, 95% CI=0.26-0.94, p=0.031) but not between SAH and controls. In the analysis of clinical symptoms, however, rs1800682 was not related to the 3 clinical phenotypes (NIHSS, MBI, and CRPS). These results suggest that a promoter SNP (rs1800682, -670C/T) in FAS may be associated with the development of stroke in the Korean population.

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