IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy.
Ospedale San Paolo, ASST Santi Paolo e Carlo, Clinical Neurology Unit, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Int J Mol Sci. 2023 Aug 29;24(17):13379. doi: 10.3390/ijms241713379.
Better knowledge about the possible role of genetic factors in modulating the response to multiple sclerosis (MS) treatment, including rehabilitation, known to promote neural plasticity, could improve the standard of care for this disease. () gene polymorphisms are associated with MS risk, probably because of the role played by vitamin D in regulating inflammatory and reparative processes. The aim of this study was to evaluate the association of the most important functional SNPs ( (/), (/), and (/)) with functional outcome in MS patients undergoing multidisciplinary inpatient rehabilitation (MDR) treatment, in order to determine whether genetic profiling might be useful to identify subjects with a higher chance of recovery. To this end, 249 MS inpatients with a diagnosis of either progressive (pMS; n = 155) or relapsing remitting (RRMS; n = 94) disease who underwent MDR treatment (average duration = 5.1 weeks) were genotyped for SNPs by real-time allelic discrimination. The rehabilitation outcome was assessed using the modified Barthel Index (mBI), Expanded Disability Status Scale (EDSS), and pain numerical rating scores (NRS) at the beginning and the end of MDR treatment. A positive correlation was observed in RRMS patients between the major allele (TT) and mBI increase (i.e., better functional recovery), as assessed by the linear and logistic regression analysis adjusted for gender, age, disease duration, time of hospitalization, positivity, and number of rehabilitative interventions (Beta = 6.35; = 0.0002). The , , : TCC haplotype was also associated with mBI increase in RRMS patients (Beta = 3.24; = 0.007), whereas the : CAC haplotype was correlated with a lower mBI increase (Beta = -2.18 = 0.04) compared with the other haplotypes. major allele (TT), as well as the , , : TCC haplotype could be associated with a better rehabilitation outcome in RRMS patients.
更好地了解遗传因素在调节多发性硬化症（MS）治疗反应中的可能作用，包括促进神经可塑性的康复，可能会提高这种疾病的护理标准。已知基因多态性与 MS 风险相关，可能是因为维生素 D 在调节炎症和修复过程中发挥作用。本研究旨在评估最重要的功能 SNP（rs7923665、rs10886632 和 rs1800896）与接受多学科住院康复（MDR）治疗的 MS 患者功能结局的相关性，以确定基因谱分析是否有助于识别具有更高康复机会的患者。为此，对 249 名诊断为进展型（pMS；n=155）或复发缓解型（RRMS；n=94）MS 的住院患者进行了功能 SNP（rs7923665、rs10886632 和 rs1800896）的实时等位基因鉴别基因分型。采用改良巴氏指数（mBI）、扩展残疾状态量表（EDSS）和疼痛数字评分量表（NRS）评估康复结局，在 MDR 治疗前后。RRMS 患者中观察到主要等位基因（TT）与 mBI 增加（即功能恢复更好）之间存在正相关，这通过线性和逻辑回归分析进行了调整，以性别、年龄、疾病持续时间、住院时间、阳性和康复干预次数为协变量（Beta=6.35；=0.0002）。RRMS 患者中，TCC 单倍型与 mBI 增加也相关（Beta=3.24；=0.007），而 CAC 单倍型与 mBI 增加呈负相关（Beta=-2.18；=0.04）与其他单倍型相比。与其他单倍型相比，主要等位基因（TT）和 TCC 单倍型可能与 RRMS 患者的康复结局更好相关。
