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"Polymorphism"

Original Articles
Association Between a Polymorphism in CASP3 and CASP9 Genes and Ischemic Stroke
Bae Youl Lee, Jinmann Chon, Hee-Sang Kim, Jong Ha Lee, Dong Hwan Yun, Seung Don Yoo, Dong Hwan Kim, Seung Ah Lee, Yoo Jin Han, Hyunseok Lee, Jin Chul Kim, Yunsoo Soh, Joo-Ho Chung, Su Kang Kim, Hae Jeong Park
Ann Rehabil Med 2017;41(2):197-203.   Published online April 27, 2017
DOI: https://doi.org/10.5535/arm.2017.41.2.197
Objective

To investigate whether the polymorphisms of CASP3 gene (rs4647602, intron A/C and rs1049216, UTR C/T) and CASP9 gene (rs1052576, Gln/Arg G/A and rs1052571, Ser/Val T/C) were associated with the development, and clinical severity of ischemic stroke and functional consequences after stroke.

Methods

Genomic DNA from 121 ischemic stroke patients and 201 healthy control subjects were extracted, and polymerase chain reaction products were sequenced. To investigate the association of polymorphisms and the development, and National Institutes of Health Stroke Scale (K-NIHSS), logistic regression models were analyzed.

Results

Polymorphism of the untranslational region of CASP3 (rs1049216, UTR C/T) has been associated with the development of ischemic stroke—in codominant1 model (odds ratio [OR], 0.51; 95% confidence interval [CI], 0.29–0.88; p=0.017), in dominant model (OR, 0.57; 95% CI, 0.34–0.97; p=0.034), and in the overdominant model (OR, 0.50; 95% CI, 0.29–0.87; p=0.011). A missense SNP of CASP9 gene (rs1052571, Ser/Val T/C) was associated with the development of ischemic stroke (OR, 1.93; 95% CI, 1.05–3.55; p=0.034 in recessive model).

Conclusion

These results indicate the possibility that CASP3 and CASP9 genes are markers for the development of ischemic stroke.

Citations

Citations to this article as recorded by  
  • Very early environmental enrichment protects against apoptosis and improves functional recovery from hypoxic–ischemic brain injury
    Hoo Young Lee, Suk-Young Song, Jihye Hwang, Ahreum Baek, Dawoon Baek, Sung Hoon Kim, Jung Hyun Park, Sungchul Choi, Soonil Pyo, Sung-Rae Cho
    Frontiers in Molecular Neuroscience.2023;[Epub]     CrossRef
  • Pathogen-driven nucleotide overload triggers mitochondria-centered cell death in phagocytes
    Nicoletta Schwermann, Rita Haller, Sebastian Koch, Guntram A. Grassl, Volker Winstel, Anders P. Hakansson
    PLOS Pathogens.2023; 19(12): e1011892.     CrossRef
  • Characterization of interaction between blood coagulation factor VIII and LRP1 suggests dynamic binding by alternating complex contacts
    Haarin Chun, James H. Kurasawa, Philip Olivares, Ekaterina S. Marakasova, Svetlana A. Shestopal, Gabriela U. Hassink, Elena Karnaukhova, Mary Migliorini, Juliet O. Obi, Ally K. Smith, Patrick L. Wintrode, Prasannavenkatesh Durai, Keunwan Park, Daniel Dere
    Journal of Thrombosis and Haemostasis.2022; 20(10): 2255.     CrossRef
  • Integrated LC-MS/MS Method and Network Pharmacology for Exploring the Mechanism of Neuroprotective Effect of Ginsenoside Rc in Oxygen-Glucose Deprivation/Reperfusion Injury
    Mingmin Huang, Shaoru Chen, Kening Zheng, Qu Liu, Kening Li, Minghua Xian, Shumei Wang
    Revista Brasileira de Farmacognosia.2021; 31(2): 207.     CrossRef
  • Caspase-9: A Multimodal Therapeutic Target With Diverse Cellular Expression in Human Disease
    Maria I. Avrutsky, Carol M. Troy
    Frontiers in Pharmacology.2021;[Epub]     CrossRef
  • To explore the Radix Paeoniae Rubra-Flos Carthami herb pair's potential mechanism in the treatment of ischemic stroke by network pharmacology and molecular docking technology
    Xingyu Chen, Yue Wang, Ying Ma, Ruonan Wang, Dexi Zhao
    Medicine.2021; 100(49): e27752.     CrossRef
  • Association Study of the Caspase Gene Family and Psoriasis Vulgaris Susceptibility in Northeastern China
    Xinyu Yao, Siyu Hao, Pei Yu
    BioMed Research International.2019; 2019: 1.     CrossRef
  • A multi-ancestry genome-wide study incorporating gene–smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure
    Yun Ju Sung, Lisa de las Fuentes, Thomas W Winkler, Daniel I Chasman, Amy R Bentley, Aldi T Kraja, Ioanna Ntalla, Helen R Warren, Xiuqing Guo, Karen Schwander, Alisa K Manning, Michael R Brown, Hugues Aschard, Mary F Feitosa, Nora Franceschini, Yingchang
    Human Molecular Genetics.2019; 28(15): 2615.     CrossRef
  • 6,299 View
  • 43 Download
  • 8 Web of Science
  • 8 Crossref
Association Between a Polymorphism (rs2071214) in Baculoviral IAP Repeat Containing 5 Gene (BIRC5) and Ischemic Stroke in Korean Population
Jinmann Chon, Hee-Sang Kim, Dong Hwan Yun, Seung Don Yoo, Dong Hwan Kim, Seung Ah Lee, Su Kang Kim, Hae Jeong Park, Joo-Ho Chung, Sungjoon Chung, Jinah Yeo
Ann Rehabil Med 2016;40(3):392-400.   Published online June 29, 2016
DOI: https://doi.org/10.5535/arm.2016.40.3.392
Objective

To investigate whether baculoviral inhibitor of apoptosis (IAP) repeat containing 5 gene (BIRC5) polymorphisms are associated with the development and clinical phenotypes of ischemic stroke in Korea population.

Methods

We enrolled 121 ischemic stroke patients and 291 control subjects. Ischemic stroke patients were divided into subgroups according to the scores of National Institutes of Health Stroke Survey (<6 or ≥6) and Modified Barthel Index (<60 or ≥60). Single nucleotide polymorphisms (SNPs) of BIRC5 (rs3764383 and rs2071214) were selected and genotyped by direct sequencing for all subjects. Multiple logistic regression models (codominant 1 and 2, dominant, recessive, overdominant and log-additive) were used to estimate odds ratios (ORs), 95% confidence intervals (CIs), and p-values.

Results

In analysis of stroke susceptibility, the genotype and allele frequencies of rs3764383 exhibited no difference between the control group and the ischemic stroke group. SNP rs2071214 was associated with ischemic stroke in the codominant (p=0.003), dominant (p=0.002), overdominant (p=0.005), and log-additive (p=0.008) models, respectively. The G allele frequency of rs2071214 was significantly (p=0.009) associated with susceptibility for ischemic stroke (OR, 1.57; 95% CI, 1.12–2.21). However, in the analysis for clinical phenotype, no SNP of the BIRC5 gene was found to be associated with ischemic stroke.

Conclusion

These results suggest that a missense SNP (rs2071214) of BIRC5 may be associated with the development of ischemic stroke in the Korean population.

Citations

Citations to this article as recorded by  
  • Impact of Survivin rs9904341 and rs17878467 Polymorphisms On Risk of Preeclampsia in Iran
    Saeedeh Salimi, Majid Zaki-Dizaji, Arman Shafiee, Mohsen Saravani, Kyana Jafarabady, Marzieh Ghasemi, Mahtab Norozi, Zohreh Heidary
    Biochemical Genetics.2024; 62(3): 2134.     CrossRef
  • Are the genetic variants/haplotypes of the CDH1 gene contribute to skin tags and internal malignancies in skin tag subjects? A pilot study
    Noha Rabie Bayomy, Suzy Fawzy Gohar, Reem Ahmed Abd El-Aziz, Amira Ibrahim Aldesoky, Nashwa Mahmoud Mouhamed Muharram
    Meta Gene.2022; 31: 101011.     CrossRef
  • Association of BIRC5 Gene Polymorphism with the Collateral Circulation and Severity of Large Artery Atherosclerotic Stroke
    Jianmin Huang, Xuebin Li, Jingjie Zhao, Haiyan Chen, Yanfan Yun, Guixin Yang, Yongming Jiang, Yaoxin Pan, Shengshan Yuan, Jianjun Huang, Li Su, Yingnin Wu, Dong Lu, Anding Xu, Lingzhang Meng, XIANWEI ZENG
    International Journal of Clinical Practice.2022; 2022: 1.     CrossRef
  • Bioinformatics Strategies to Identify Shared Molecular Biomarkers That Link Ischemic Stroke and Moyamoya Disease with Glioblastoma
    Md Khairul Islam, Md Rakibul Islam, Md Habibur Rahman, Md Zahidul Islam, Md Al Amin, Kazi Rejvee Ahmed, Md Ataur Rahman, Mohammad Ali Moni, Bonglee Kim
    Pharmaceutics.2022; 14(8): 1573.     CrossRef
  • Influences of genetic variants on stroke recovery: a meta-analysis of the 31,895 cases
    Nikhil Math, Thang S. Han, Irina Lubomirova, Robert Hill, Paul Bentley, Pankaj Sharma
    Neurological Sciences.2019; 40(12): 2437.     CrossRef
  • 5,232 View
  • 72 Download
  • 7 Web of Science
  • 5 Crossref
Polymorphism of Nitric Oxide Synthase 1 Affects the Clinical Phenotypes of Ischemic Stroke in Korean Population
Seung Don Yoo, Jun Sang Park, Dong Hwan Yun, Hee-Sang Kim, Su Kang Kim, Dong Hwan Kim, Jinmann Chon, Goun Je, Yoon-Seong Kim, Joo-Ho Chung, Seung Joon Chung, Jin Ah Yeo
Ann Rehabil Med 2016;40(1):102-110.   Published online February 26, 2016
DOI: https://doi.org/10.5535/arm.2016.40.1.102
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.

Conclusion

These results suggest that NOS1 may be related to the clinical phenotypes of ischemic stroke in Korean population.

Citations

Citations to this article as recorded by  
  • Genetic Polymorphisms in Oxidative Stress and Inflammatory Pathways as Potential Biomarkers in Alzheimer’s Disease and Dementia
    David Vogrinc, Milica Gregorič Kramberger, Andreja Emeršič, Saša Čučnik, Katja Goričar, Vita Dolžan
    Antioxidants.2023; 12(2): 316.     CrossRef
  • The rs2682826 Polymorphism of the NOS1 Gene Is Associated with the Degree of Disability of Erectile Dysfunction
    Leticia Perticarrara Ferezin, Cezar Kayzuka, Vitória Carolina Rondon Pereira, Murilo Ferreira de Andrade, Carlos Augusto Fernandes Molina, Silvio Tucci, Jose Eduardo Tanus-Santos, Riccardo Lacchini
    Life.2023; 13(5): 1082.     CrossRef
  • Association between GABRG2 Gene Single Nucleotide Polymorphisms and Susceptibility to Ischemic Stroke in a Chinese Population
    Mingming Ma, Jing Zhao, Dandan Xie, Juan Chen
    Journal of Integrative Neuroscience.2023;[Epub]     CrossRef
  • Gene polymorphisms in calcium-calmodulin pathway: Focus on cardiovascular disease
    Sofia Beghi, Francesca Cavaliere, Annamaria Buschini
    Mutation Research - Reviews in Mutation Research.2020; 786: 108325.     CrossRef
  • Association of NOS1 gene polymorphisms with cerebral palsy in a Han Chinese population: a case-control study
    Ting Yu, Lei Xia, Dan Bi, Yangong Wang, Qing Shang, Dengna Zhu, Juan Song, Yong Wang, Xiaoyang Wang, Changlian Zhu, Qinghe Xing
    BMC Medical Genomics.2018;[Epub]     CrossRef
  • Analysis between nitric oxide synthase 1 (NOS1) and risk of obesity
    Hyun Kyung Park, Su Kang Kim, Oh Young Kwon, Joo-Ho Chung, Seong-Kyu Lee
    Molecular & Cellular Toxicology.2016; 12(2): 217.     CrossRef
  • 5,149 View
  • 45 Download
  • 6 Web of Science
  • 6 Crossref
Reduction of Continuous Theta Burst Stimulation-Induced Motor Plasticity in Healthy Elderly With COMT Val158Met Polymorphism
Nam Jae Lee, Hyun Jung Ahn, Kwang-Ik Jung, Suk Hoon Ohn, Jeonghoon Hong, Yun Joong Kim, Woo-Kyoung Yoo
Ann Rehabil Med 2014;38(5):658-664.   Published online October 30, 2014
DOI: https://doi.org/10.5535/arm.2014.38.5.658
Objective

To delineate whether cortical plasticity induced by continuous theta burst stimulation (cTBS) differed according to catechol-O-methyltransferase (COMT) gene polymorphism in healthy older adults.

Methods

Eighteen healthy older volunteers (mean age 73.78±5.04; 12 females and 6 males) were recruited. Volunteers randomly assigned in either a sham-first or real cTBS first group participated in two separate TMS visits with at least a 2-day wash-out period. Genotyping was carried out at baseline by a separate researcher who was blinded. cTBS was delivered in a hot spot over M1 at an active motor threshold of 80%. Motor evoked potentials (MEPs) were obtained at 120% of the resting motor threshold before and after sham/cTBS.

Results

The relative MEP to baseline was significantly decreased 0 and 10 minutes post-stimulation and increased 40 minutes post-stimulation, as compared with the sham condition. Immediately after cTBS, the Val/Val group had a significantly reduced relative MEP value, as compared with the MET carrier group.

Conclusion

In healthy older persons, cTBS-induced motor plasticity was reduced in the COMT Val/Val group as compared with the 158Met carrier group.

Citations

Citations to this article as recorded by  
  • Age-related changes in responsiveness to non-invasive brain stimulation neuroplasticity paradigms: A systematic review with meta-analysis
    Mahima Shah, Suraj Suresh, Johanna Paddick, Maddison L. Mellow, Amy Rees, Carolyn Berryman, Tasha R. Stanton, Ashleigh E. Smith
    Clinical Neurophysiology.2024; 162: 53.     CrossRef
  • Assessing the mechanisms of brain plasticity by transcranial magnetic stimulation
    Ali Jannati, Lindsay M. Oberman, Alexander Rotenberg, Alvaro Pascual-Leone
    Neuropsychopharmacology.2023; 48(1): 191.     CrossRef
  • Correlations between COMT polymorphism and brain structure and cognition in elderly subjects
    Eunsil Cha, Hyun Jung Ahn, Wonil Kang, Kwang-Ik Jung, Suk Hoon Ohn, Shahid Bashir, Woo-Kyoung Yoo
    Medicine.2022; 101(18): e29214.     CrossRef
  • Identifying novel biomarkers with TMS-EEG – Methodological possibilities and challenges
    Elisa Kallioniemi, Zafiris J. Daskalakis
    Journal of Neuroscience Methods.2022; 377: 109631.     CrossRef
  • Cortical hyperexcitability and plasticity in Alzheimer’s disease: developments in understanding and management
    Mehdi A. J van den Bos, Parvathi Menon, Steve Vucic
    Expert Review of Neurotherapeutics.2022; 22(11-12): 981.     CrossRef
  • Determining the optimal pulse number for theta burst induced change in cortical excitability
    Daniel M. McCalley, Daniel H. Lench, Jade D. Doolittle, Julia P. Imperatore, Michaela Hoffman, Colleen A. Hanlon
    Scientific Reports.2021;[Epub]     CrossRef
  • Modulation of motor cortical excitability by continuous theta-burst stimulation in adults with autism spectrum disorder
    Ali Jannati, Mary A. Ryan, Gabrielle Block, Fae B. Kayarian, Lindsay M. Oberman, Alexander Rotenberg, Alvaro Pascual-Leone
    Clinical Neurophysiology.2021; 132(7): 1647.     CrossRef
  • Large-scale analysis of interindividual variability in single and paired-pulse TMS data
    Daniel T. Corp, Hannah G.K. Bereznicki, Gillian M. Clark, George J. Youssef, Peter J. Fried, Ali Jannati, Charlotte B. Davies, Joyce Gomes-Osman, Melissa Kirkovski, Natalia Albein-Urios, Paul B. Fitzgerald, Giacomo Koch, Vincenzo Di Lazzaro, Alvaro Pascua
    Clinical Neurophysiology.2021; 132(10): 2639.     CrossRef
  • A Checklist to Reduce Response Variability in Studies Using Transcranial Magnetic Stimulation for Assessment of Corticospinal Excitability: A Systematic Review of the Literature
    Michael Pellegrini, Maryam Zoghi, Shapour Jaberzadeh
    Brain Connectivity.2020; 10(2): 53.     CrossRef
  • Cognitive Enhancement via Neuromodulation and Video Games: Synergistic Effects?
    Marc Palaus, Raquel Viejo-Sobera, Diego Redolar-Ripoll, Elena M. Marrón
    Frontiers in Human Neuroscience.2020;[Epub]     CrossRef
  • Large-scale analysis of interindividual variability in theta-burst stimulation data: Results from the ‘Big TMS Data Collaboration’
    Daniel T. Corp, Hannah G.K. Bereznicki, Gillian M. Clark, George J. Youssef, Peter J. Fried, Ali Jannati, Charlotte B. Davies, Joyce Gomes-Osman, Julie Stamm, Sung Wook Chung, Steven J. Bowe, Nigel C. Rogasch, Paul B. Fitzgerald, Giacomo Koch, Vincenzo Di
    Brain Stimulation.2020; 13(5): 1476.     CrossRef
  • Age-related differences of motor cortex plasticity in adults: A transcranial direct current stimulation study
    Ensiyeh Ghasemian-Shirvan, Leila Farnad, Mohsen Mosayebi-Samani, Stefanie Verstraelen, Raf L.J. Meesen, Min-Fang Kuo, Michael A. Nitsche
    Brain Stimulation.2020; 13(6): 1588.     CrossRef
  • Genetic influences on the variability of response to repetitive transcranial magnetic stimulation in human pharyngeal motor cortex
    Alicja Raginis‐Zborowska, Ivy Cheng, Neil Pendleton, Antony Payton, William Ollier, Emilia Michou, Shaheen Hamdy
    Neurogastroenterology & Motility.2019;[Epub]     CrossRef
  • Variability and Predictors of Response to Continuous Theta Burst Stimulation: A TMS-EEG Study
    Lorenzo Rocchi, Jaime Ibáñez, Alberto Benussi, Ricci Hannah, Vishal Rawji, Elias Casula, John Rothwell
    Frontiers in Neuroscience.2018;[Epub]     CrossRef
  • Interindividual variability in response to continuous theta-burst stimulation in healthy adults
    Ali Jannati, Gabrielle Block, Lindsay M. Oberman, Alexander Rotenberg, Alvaro Pascual-Leone
    Clinical Neurophysiology.2017; 128(11): 2268.     CrossRef
  • Genetic polymorphisms and the adequacy of brain stimulation: state of the art
    Amene Saghazadeh, Shadi A. Esfahani, Nima Rezaei
    Expert Review of Neurotherapeutics.2016; 16(9): 1043.     CrossRef
  • Ten Years of Theta Burst Stimulation in Humans: Established Knowledge, Unknowns and Prospects
    A. Suppa, Y.-Z. Huang, K. Funke, M.C. Ridding, B. Cheeran, V. Di Lazzaro, U. Ziemann, J.C. Rothwell
    Brain Stimulation.2016; 9(3): 323.     CrossRef
  • 4,861 View
  • 54 Download
  • 18 Web of Science
  • 17 Crossref
The Insertion/Deletion Polymorphism of Angiotensin I Converting Enzyme Gene is Associated With Ossification of the Posterior Longitudinal Ligament in the Korean Population
Dong Hwan Kim, Dong Hwan Yun, Hee-Sang Kim, Seong Ki Min, Seung Don Yoo, Kyu Hoon Lee, Ki-Tack Kim, Dae Jean Jo, Su Kang Kim, Joo-Ho Chung, Ju Yeon Ban, Sung Yong Lee
Ann Rehabil Med 2014;38(1):1-5.   Published online February 25, 2014
DOI: https://doi.org/10.5535/arm.2014.38.1.1
Objective

To determine whether ACE insertion/deletion (I/D) polymorphism is associated with the ossification of the posterior longitudinal ligament (OPLL) of the spine in the Korean population.

Methods

A case-control study was conducted to investigate the association between I/D polymorphism of the angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE) gene and OPLL. The 95 OPLL patients and 274 control subjects were recruited. Polymerase chain reaction for the genotyping of ACE I/D polymorphism was performed. The difference between the OPLL patients and the control subjects was compared using the contingency χ2 test and the logistic regression analysis. For statistical analysis, SPSS, SNPStats, SNPAnalyzer, and Helixtree programs were used.

Results

The genotype and allele frequencies of ACE I/D polymorphism showed significant differences between the OPLL patients and the control subjects (genotype, p<0.001; allele, p=0.009). The frequencies of D/D genotype and D allele in the OPLL group were higher than those in the control group. In logistic regression analysis, ACE I/D polymorphism was associated with OPLL (dominant model; p=0.002; odd ratio, 2.20; 95% confidence interval, 1.33-3.65).

Conclusion

These results suggest that the deletion polymorphism of the ACE gene may be a risk factor for the development of OPLL in the Korean population.

Citations

Citations to this article as recorded by  
  • Evaluation of Genetic and Nongenetic Risk Factors for Degenerative Cervical Myelopathy
    Maksim A. Shlykov, Erica M. Giles, Michael P. Kelly, Shiow J. Lin, Vy T. Pham, Nancy L. Saccone, Elizabeth L. Yanik
    Spine.2023; 48(16): 1117.     CrossRef
  • Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments
    Hajime Kato, Demetrios T. Braddock, Nobuaki Ito
    Current Osteoporosis Reports.2023; 21(5): 552.     CrossRef
  • Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review
    Ana Rita Couto, Bruna Parreira, Deborah M. Power, Luís Pinheiro, João Madruga Dias, Irina Novofastovski, Iris Eshed, Piercarlo Sarzi-Puttini, Nicola Pappone, Fabiola Atzeni, Jorrit-Jan Verlaan, Jonneke Kuperus, Amir Bieber, Pasquale Ambrosino, David Kiefe
    Frontiers in Genetics.2022;[Epub]     CrossRef
  • Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies
    Daniel H. Pope, Benjamin M. Davies, Oliver D. Mowforth, A. Ramsay Bowden, Mark R. N. Kotter
    Journal of Clinical Medicine.2020; 9(1): 282.     CrossRef
  • Quantification of Risk Factors for Cervical Ossification of the Posterior Longitudinal Ligament in Korean Populations
    Jaeyong Shin, Ja Young Choi, Yong Wook Kim, Jee Suk Chang, Seo Yeon Yoon
    Spine.2019; 44(16): E957.     CrossRef
  • Genetic polymorphisms in bone morphogenetic protein receptor type IA gene predisposes individuals to ossification of the posterior longitudinal ligament of the cervical spine via the smad signaling pathway
    Hao Wang, Weitao Jin, Haibin Li
    BMC Musculoskeletal Disorders.2018;[Epub]     CrossRef
  • Cohort study of cervical ossification of posterior longitudinal ligament in a Korean populations: Demographics of prevalence, surgical treatment, and disability
    Jaeyong Shin, Yong Wook Kim, Sang Gyu Lee, Eun-Cheol Park, Seo Yeon Yoon
    Clinical Neurology and Neurosurgery.2018; 166: 4.     CrossRef
  • The Pathogenesis of Ossification of the Posterior Longitudinal Ligament
    Liang Yan, Rui Gao, Yang Liu, Baorong He, Shemin Lv, Dingjun Hao
    Aging and disease.2017; 8(5): 570.     CrossRef
  • 5,283 View
  • 53 Download
  • 7 Web of Science
  • 8 Crossref
Effect of the Presence of Brain-Derived Neurotrophic Factor Val66Met Polymorphism on the Recovery in Patients With Acute Subcortical Stroke
Won-Seok Kim, Jong Youb Lim, Joon Ho Shin, Hye Kyung Park, Samuel Arnado Tan, Kyoung Un Park, Nam-Jong Paik
Ann Rehabil Med 2013;37(3):311-319.   Published online June 30, 2013
DOI: https://doi.org/10.5535/arm.2013.37.3.311
Objective

To investigate the effect of brain-derived neurotrophic factor (BDNF) Val66Met polymorphism on the recovery after subcortical stroke, using the modified Rankin Scale (mRS).

Methods

Subcortical stroke patients with copies of BDNF Val66Met polymorphism (n=7) were compared to their controls (n=7) without a copy of BDNF Val66Met polymorphism after matching for initial severity, location and type of stroke. The mRS scores at 1 and 3 months after discharge from the neurorehabilitation unit were compared between the groups.

Results

A repeated measures ANOVA for mRS revealed significant interaction between time and group (F(2, 24) =37.2, p<0.001) and a significant effect of time (F(2, 24)=10.8, p<0.001), thereby reflecting significant differences between the Met allele (+) group and the Met allele (-) group. There was a significant difference in mRS scores at 3 months post-discharge between the two groups (p=0.01) although no difference was evident in mRS scores at 1 month post-discharge between the two groups. There were significant improvements between mRS scores on admission and mRS scores at 1 month post-discharge (p=0.02), and between mRS scores at 1 month post-discharge and mRS scores at 3 months post-discharge (p=0.004) in the Met allele (-) group.

Conclusion

BDNF Val66Met polymorphism may be associated with worse functional outcome in Korean patients with subcortical stroke. Therefore, BDNF Val66Met polymorphism should be considered as an important prognostic factor for recovery and responses to rehabilitation therapies after stroke in Korean patients. There is a need for developing different rehabilitation strategies for the population with BDNF Val66Met polymorphism. Further studies assessing different outcomes for various functional domains of stroke recovery are needed to clarify the role of BDNF Val66Met polymorphism.

Citations

Citations to this article as recorded by  
  • BDNF: New Views of an Old Player in Traumatic Brain Injury
    Lauren P. Giesler, Richelle Mychasiuk, Sandy R. Shultz, Stuart J. McDonald
    The Neuroscientist.2024; 30(5): 560.     CrossRef
  • BDNF (rs6265) Val < Met polymorphism can buffer cognitive functions against post stroke CT/MRI pathological findings
    Sajjad Rezaei, Karim Asgari Mobarake, Alia Saberi
    Applied Neuropsychology: Adult.2022; 29(5): 971.     CrossRef
  • Brain-Derived Neurotrophic Factor Gene Polymorphism Predicts Response to Continuous Theta Burst Stimulation in Chronic Stroke Patients
    Shreya Parchure, Denise Y. Harvey, Priyanka P. Shah-Basak, Laura DeLoretta, Rachel Wurzman, Daniela Sacchetti, Olufunsho Faseyitan, Falk W. Lohoff, Roy H. Hamilton
    Neuromodulation: Technology at the Neural Interface.2022; 25(4): 569.     CrossRef
  • Determining the Optimal Administration Conditions under Which MIF Exerts Neuroprotective Effects by Inducing BDNF Expression and Inhibiting Apoptosis in an In Vitro Stroke Model
    Chul Jung, Mi Hee Kim, Ye Yeong Kim, Ji Ae Kim, Eun Jae Ko, Seung Hak Lee, Dae Yul Kim
    Brain Sciences.2021; 11(2): 280.     CrossRef
  • Biomarkers of Angiogenesis and Neuroplasticity as Promising Clinical Tools for Stroke Recovery Evaluation
    Lidia Wlodarczyk, Rafal Szelenberger, Natalia Cichon, Joanna Saluk-Bijak, Michal Bijak, Elzbieta Miller
    International Journal of Molecular Sciences.2021; 22(8): 3949.     CrossRef
  • The Influence of Val66Met Polymorphism in Brain-Derived Neurotrophic Factor on Stroke Recovery Outcome: A Systematic Review and Meta-analysis
    Xuan Liu, Jun-Chao Fang, Xin-Yue Zhi, Qiu-Yu Yan, Hong Zhu, Juan Xie
    Neurorehabilitation and Neural Repair.2021; 35(6): 550.     CrossRef
  • Genetics of stroke recovery: BDNF val66met polymorphism in stroke recovery and its interaction with aging
    Mustafa Balkaya, Sunghee Cho
    Neurobiology of Disease.2019; 126: 36.     CrossRef
  • Differences in brain-derived neurotrophic factor gene polymorphisms between acute ischemic stroke patients and healthy controls in the Han population of southwest China
    Jie Zhou, Meng-Meng Ma, Jing-Huan Fang, Lei Zhao, Mu-Ke Zhou, Jian Guo, Li He
    Neural Regeneration Research.2019; 14(8): 1404.     CrossRef
  • Can pharmacological manipulation of LTP favor the effects of motor rehabilitation in multiple sclerosis?
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The Impacts of ACE Activity according to ACE I/D Polymorphisms on Muscular Functions of People Aged 65
Hyeon-Jung Kang, Chul-Hyun Kim, Dong-Sik Park, Seung-Yeon Choi, Dong-Hoon Lee, Hee-Seung Nam, Jin-Gang Hur, Ji-Hea Woo
Ann Rehabil Med 2012;36(4):433-446.   Published online August 27, 2012
DOI: https://doi.org/10.5535/arm.2012.36.4.433
Objective

To investigate associations between angiotensin-converting enzyme (ACE) polymorphisms and muscle fatigability in 65-year-old Koreans.

Method

The study participants were 49 Koreans aged 65 years. ACE insertion/deletion (I/D) polymorphisms were determined by polymerase chain reaction and serum ACE activity, by spectrophotometry. Body mass index (BMI), body fat mass (BFM), and lean body mass (LBM) were determined. To evaluate muscle fatigability, dynamic Electromyography was used to measure maximum voluntary isometric contractions (MVICs) of ankle plantar flexor muscles. Patients were seated with their hips flexed at 90°, knees fully extended, and ankles at 0°. Continuous submaximal VICs (40% MVIC) were then performed, and contraction duration and EMG frequency changes during the initial 2 min were measured. A self-reported physical activity questionnaire was used to evaluate effects of ACE activity levels on muscle fatigability.

Results

Among the 49 volunteers, 15 showed II genotype; 22, ID genotype; and 12, DD genotype. Serum ACE activity levels were significantly higher in DD genotype subjects than in II genotype subjects (p<0.05). Furthermore, the duration of submaximal isometric contractions was longer in II and ID genotype subjects than in DD genotype subjects (p<0.05). Dynamic EMG showed significantly lower mean frequency changes in II genotype subjects than in DD genotype subjects (p<0.05). However, LBM, BFM, and BMI were independent of ACE genotypes.

Conclusion

ACE II genotype subjects showed significantly higher resistant to muscle fatigue than that by DD genotype subjects. However, body composition and BMI showed no correlations with ACE I/D polymorphisms.

Citations

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