Association Study of SLC6A4 (5-HTTLPR) Polymorphism and Its Promoter Methylation with Rehabilitation Outcome in Patients with Subacute Stroke

How will you use this association  to get survivors recovered? Create protocols that deliver the corrects amounts of SLC6A4 and 5HTTLPR to the brain?   Or DO NOTHING BECAUSE THERE IS NO STROKE LEADERSHIP?

Association Study of SLC6A4 (5-HTTLPR) Polymorphism and Its Promoter Methylation with Rehabilitation Outcome in Patients with Subacute Stroke

by

Massimo Santoro

,

Mariacristina Siotto

^*,

Marco Germanotta

,

Alessia Mastrorosa

,

Dionysia Papadopoulou

and

Irene Aprile

IRCCS Fondazione Don Carlo Gnocchi ONLUS, 50143 Florence, Italy

^*

Author to whom correspondence should be addressed.

Academic Editor: Tiziana Angrisano

Genes 2021, 12(4), 579; https://doi.org/10.3390/genes12040579

Received: 1 March 2021 / Revised: 9 April 2021 / Accepted: 13 April 2021 / Published: 16 April 2021

(This article belongs to the Special Issue Deciphering Epigenetic Signature in Human Health and Disease)

View Full-Text Download PDF

Browse Figures

Citation Export

Abstract

Recently it has been suggested that serotonin transporter (SLC6A4) and its 5HTTLPR polymorphism could be involved in post stroke recovery. Here, we characterized the methylation profile of two different CpG islands within the SLC6A4 promoter region in the whole blood of 50 patients with subacute stroke before and after a six-week rehabilitation treatment. These patients were genotyped for 5HTTLPR polymorphism identifying patients on the basis of short (S) and L (L) alleles: 17 patients LL, 22 patients LS and 11 patients SS. At baseline, all CpG sites for both CpG islands displayed a heterogeneous methylation percentage that were not influenced by the different genotypes. After rehabilitation, we found a significant variation in the methylation levels (increase/decrease) in the specific CpG sites of both CpG islands. The statistical analysis showed a significant relationship between the LL, LS and SS alleles and the outcome of the rehabilitation intervention (χ² (2,50) = 6.395, p = 0.041). Specifically, we found a significant difference between patients with or without a favorable outcome in the LL (11.1% with a favorable outcome) and in the SS (54.4% with a favorable outcome) groups. Our data suggest that 5-HTTLPR polymorphisms and SLC6A4 promoter methylation may be employed as a non-invasive biological marker of recovery in patients with stroke undergoing rehabilitation. View Full-Text

Keywords: SLC6A4; 5-HTTLPR polymorphism; methylation; stroke; rehabilitation

▼ Show Figures

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited