Correlation between Epigenetic Markers and Sociodemographic Factors in Autism Spectrum Disorder in Brazil

Abstract

 Autism Spectrum Disorder (ASD) is a multifactorial neurodevelopmental 
condition whose etiology involves interactions between genetic, environmental, and epigenetic factors. Epigenetics acts as a molecular interface between the environment and gene expression, being sensitive to adverse social conditions. This study analyzed the sociodemographic distribution of ASD in Brazil using data from the 2022 Demographic Census conducted by the Brazilian Institute of Geography and Statistics (IBGE), correlating the observed patterns with findings from the epigenetic literature. The descriptive analysis revealed that, in Brazil, the highest prevalence of diagnoses is in the Southeast region (1,042,066 cases); among males (ratio ~3:1), in the 5-to-9-year age group, and among self-declared white individuals. These patterns are subject to underreporting bias and unequal access to diagnosis. The integration of these sociodemographic data with molecular findings indicates that sex-linked differences in DNA methylation (involving genes such as MECP2), regionally variable environmental exposures (pollutants, psychosocial stress), and food insecurity may modulate the expression of ASD susceptibility genes, such as RELN and SHANK3. Recent data show that chronic stressors alter methylation patterns in neurodevelopmental genes, suggesting that regional and racial disparities do not merely reflect access barriers but also actual differences in the burden of exposure to environmental factors with epigenetic potential. It is concluded that disparities in ASD diagnosis in Brazil reflect structural inequalities in healthcare access, exacerbated by epigenetic mechanisms mediated by socio environmental conditions in vulnerable populations. Equitable policies and integrative research are essential for early diagnosis and universal care.