基因检测
多发性硬化
医学
病理
生物信息学
物理医学与康复
内科学
生物
精神科
作者
Clint Johannes,Kelebogile E. Moremi,Merlisa C. Kemp,Lindiwe Whati,Penelope C. Engel-Hills,Martin Kidd,Ronald van Toorn,Mariaan Jaftha,Susan J. van Rensburg,Maritha J. Kotze
出处
期刊:Personalized Medicine
[Future Medicine]
日期:2023-03-01
卷期号:20 (2): 107-130
被引量:4
标识
DOI:10.2217/pme-2022-0016
摘要
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.
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