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Abstract Details

Unveiling Immune Dysregulation: Insights into FOXP3 Expression and Ancestry Associations in Neuromyelitis Optica Spectrum Disorder in Patients from Bogotá, Colombia.
Autoimmune Neurology
P6 - Poster Session 6 (5:00 PM-6:00 PM)
1-005
To compare FOXP3 expression between NMOSD patients and controls and evaluate its relationship with genetic ancestry in a Bogotá-based cohort.
Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disease of the central nervous system characterized by relapses involving the optic nerve and spinal cord, with epidemiologic variation across regions and ethnic groups. FOXP3, a transcription factor in CD4? regulatory T cells (Treg), is essential for immune tolerance. In this cohort, we quantified FOXP3 expression in NMOSD versus controls and assessed its relationship with genetic ancestry.
In this cross-sectional exploratory study, peripheral blood mononuclear cells (PBMCs) were isolated, RNA was extracted, reverse-transcribed into cDNA, and FOXP3 expression was measured by qPCR, normalized to β-actin. Relative quantification used the 2−ΔCt method. Genetic ancestry proportions were estimated through Ancestry Informative Markers (AIMs). Stratified regression analyses tested associations between FOXP3 expression and ancestry, adjusting for disease status.

Twenty-six NMOSD patients and fifteen controls were analyzed. FOXP3 expression was reduced in NMOSD compared with controls (p=0.027). Patients with atypical optic neuritis had lower FOXP3 than those without this presentation (p=0.0059). After adjusting for disease status, FOXP3 expression showed significant associations with African (p=0.035) and Native/Indigenous American ancestry (p=0.012).
FOXP3, the hallmark transcription factor of Tregs, is essential for maintaining immune tolerance. In our cohort, FOXP3 expression was decreased in NMOSD compared with controls. Among NMOSD patients, African and Indigenous American ancestry correlated with FOXP3 levels. These findings provide insight into immune mechanisms and biological heterogeneity across populations and warrant further studies to clarify the role and importance of FOXP3 in NMOSD.
Authors/Disclosures
Luis F. Ibarra, MD
PRESENTER 		Dr. Ibarra has nothing to disclose.
Juliana Lago, PhD Dr. Lago has nothing to disclose.
Jairo A. Gaitan Alfonso, MD (Fundación Santa Fe de Bogotá) Dr. Gaitan Alfonso has nothing to disclose.
Daniela S. Rodriguez (Fundación Santafé) Ms. Rodriguez has nothing to disclose.
Juan P. Rodriguez noriega, MD Dr. Rodriguez noriega has nothing to disclose.
Saul Reyes, MD (The Royal London Hospital) Dr. Reyes has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Merck. Dr. Reyes has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for BIIB. Dr. Reyes has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Merck. Dr. Reyes has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Biogen.
Diana Narvaez, PhD Dr. Narvaez has nothing to disclose.
Jaime Toro, MD, FAAN (Universidad El Bosque) Dr. Toro has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Watch Neurology .
Helena Groot (Universidad de los Andes) Helena Groot has nothing to disclose.