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Papers of the Week

Papers: 9 Sep 2023 - 15 Sep 2023

Basic Science

Genetics, Human Studies, Neurobiology

Inflammation/Inflammatory, Neuropathic Pain

2023 Aug 29

Int J Mol Sci




Vitamin D Receptor Gene Polymorphism Predicts the Outcome of Multidisciplinary Rehabilitation in Multiple Sclerosis Patients.


Guerini FR, Agliardi C, Oreni L, Groppo E, Bolognesi E, Zanzottera M, Caputo D, Rovaris M, Clerici M


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.