Clint Johannes, Kelebogile E Moremi, Merlisa C Kemp, Lindiwe Whati, Penelope Engel-Hills, Martin Kidd, Ronald van Toorn, Mariaan Jaftha, Susan J van Rensburg, Maritha J Kotze
{"title":"病理支持的基因检测为改善多发性硬化症的残疾结果提供了机会。","authors":"Clint Johannes, Kelebogile E Moremi, Merlisa C Kemp, Lindiwe Whati, Penelope Engel-Hills, Martin Kidd, Ronald van Toorn, Mariaan Jaftha, Susan J van Rensburg, Maritha J Kotze","doi":"10.2217/pme-2022-0016","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background:</b> Lipid metabolism may impact disability in people with multiple sclerosis (pwMS). <b>Methods:</b> Fifty-one pwMS entered an ultrasound and MRI study, of whom 19 had followed a pathology-supported genetic testing program for more than 10 years (pwMS-ON). Genetic variation, blood biochemistry, vascular blood flow velocities, diet and exercise were investigated. <b>Results:</b> pwMS-ON had significantly lower (p < 0.01) disability (Expanded Disability Status Scale) than pwMS not on the program (1.91 ± 0.75 vs 3.87 ± 2.32). A genetic variant in the lipid transporter <i>FABP2</i> gene (rs1799883; 2445G>A, A54T) was significantly associated (p < 0.01) with disability in pwMS not on the program, but not in pwMS-ON (p = 0.88). Vascular blood flow velocities were lower in the presence of the A-allele. <b>Conclusion:</b> Pathology-supported genetic testing may provide guidance for lifestyle interventions with a significant impact on improved disability in pwMS.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 2","pages":"107-130"},"PeriodicalIF":1.7000,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Pathology-supported genetic testing presents opportunities for improved disability outcomes in multiple sclerosis.\",\"authors\":\"Clint Johannes, Kelebogile E Moremi, Merlisa C Kemp, Lindiwe Whati, Penelope Engel-Hills, Martin Kidd, Ronald van Toorn, Mariaan Jaftha, Susan J van Rensburg, Maritha J Kotze\",\"doi\":\"10.2217/pme-2022-0016\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Background:</b> Lipid metabolism may impact disability in people with multiple sclerosis (pwMS). <b>Methods:</b> Fifty-one pwMS entered an ultrasound and MRI study, of whom 19 had followed a pathology-supported genetic testing program for more than 10 years (pwMS-ON). Genetic variation, blood biochemistry, vascular blood flow velocities, diet and exercise were investigated. <b>Results:</b> pwMS-ON had significantly lower (p < 0.01) disability (Expanded Disability Status Scale) than pwMS not on the program (1.91 ± 0.75 vs 3.87 ± 2.32). A genetic variant in the lipid transporter <i>FABP2</i> gene (rs1799883; 2445G>A, A54T) was significantly associated (p < 0.01) with disability in pwMS not on the program, but not in pwMS-ON (p = 0.88). Vascular blood flow velocities were lower in the presence of the A-allele. <b>Conclusion:</b> Pathology-supported genetic testing may provide guidance for lifestyle interventions with a significant impact on improved disability in pwMS.</p>\",\"PeriodicalId\":19753,\"journal\":{\"name\":\"Personalized medicine\",\"volume\":\"20 2\",\"pages\":\"107-130\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2023-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Personalized medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2217/pme-2022-0016\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PHARMACOLOGY & PHARMACY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Personalized medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2217/pme-2022-0016","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PHARMACOLOGY & PHARMACY","Score":null,"Total":0}
Pathology-supported genetic testing presents opportunities for improved disability outcomes in multiple sclerosis.
Background: Lipid metabolism may impact disability in people with multiple sclerosis (pwMS). Methods: Fifty-one pwMS entered an ultrasound and MRI study, of whom 19 had followed a pathology-supported genetic testing program for more than 10 years (pwMS-ON). Genetic variation, blood biochemistry, vascular blood flow velocities, diet and exercise were investigated. Results: pwMS-ON had significantly lower (p < 0.01) disability (Expanded Disability Status Scale) than pwMS not on the program (1.91 ± 0.75 vs 3.87 ± 2.32). A genetic variant in the lipid transporter FABP2 gene (rs1799883; 2445G>A, A54T) was significantly associated (p < 0.01) with disability in pwMS not on the program, but not in pwMS-ON (p = 0.88). Vascular blood flow velocities were lower in the presence of the A-allele. Conclusion: Pathology-supported genetic testing may provide guidance for lifestyle interventions with a significant impact on improved disability in pwMS.
期刊介绍:
Personalized Medicine (ISSN 1741-0541) translates recent genomic, genetic and proteomic advances into the clinical context. The journal provides an integrated forum for all players involved - academic and clinical researchers, pharmaceutical companies, regulatory authorities, healthcare management organizations, patient organizations and others in the healthcare community. Personalized Medicine assists these parties to shape thefuture of medicine by providing a platform for expert commentary and analysis.
The journal addresses scientific, commercial and policy issues in the field of precision medicine and includes news and views, current awareness regarding new biomarkers, concise commentary and analysis, reports from the conference circuit and full review articles.