Association between Glu298Asp/677C-T single nucleotide polymorphism in the eNOS/MTHRF gene and blood stasis syndrome of ischemic stroke |
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| Authors: | Lihui Xiong Mulin Hu Xiaoyan Zhang Zhiwei Jing Tao Li Guoxin Li Jun Liu Yanan Yu Fanyun Meng Zhong Wang |
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| Affiliation: | 1. Institute of Basic Research in Clinical Medicine, China Academy of Chinese Medical Sciences, Beijing 100700, China;2. Changchun University of Chinese Medicine, Changchun 130117, China;3. Traditional Chinese Medicine Hospital of Xingyuan Jinfang, Beijing 101300, China;4. Shanghai Outdo Biotech Co., Ltd, 201203, China;5. Xiyuan Hospital, China Academy of Chinese Medical Sciences, Beijing 100091, China;6. The Second Affiliated Hospital, Liaoning University of Traditional Chinese Medicine, Shenyang 110034, China;g Institute of Nature Medicine and Chinese Medicine Resources, Beijing Normal University, Beijing 100875, China |
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| Abstract: | Blood stasis syndrome of ischemic stroke (BSS-IS) is a common clinical phenotype that may be affected by certain mutagenic environmental factors or chemotherapeutic drugs; however, the role of susceptibility genes remains unclear. Previous studies have shown that ischemic stroke (IS) was closely associated with the Glu298Asp polymorphism in the eNOS gene and the 677C-T (Ala→Val) polymorphism in methylenetetrahydrofolate reductase (MTHRF) gene. Therefore, these two single nucleotide polymorphisms (SNPs) were selected to detect their associations with BSS-IS in this study. A SNP chip was employed to screen the SNP variation between both groups, and the results were verified using denaturing high-performance liquid chromatography (DHPLC) and restriction fragment length polymorphism (RFLP). The results confirmed that the TT genotype of Glu298Asp in the eNOS gene may be one of the risk factors associated with BSS-IS, while the genotype of 677C-T (Ala→Val) in the MTHRF gene may not be relevant to BSS-IS. |
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| Keywords: | IS, ischemic stroke BSS, blood stasis syndrome BSS-IS, blood stasis syndrome of ischemic stroke eNOS, endothelial nitric oxide synthase MTHRF, methylenetetrahydrofolate reductase SNPs, single nucleotide polymorphisms DHPLC, denaturing high-performance liquid chromatography RFLP, restriction fragment length polymorphism TCM, traditional Chinese medicine PCR, polymerase chain reaction CI, confidence interval OR, odds ratio |
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