Sep 2026· Indian Journal of Pediatrics· Vol 93, pp. 1190 - 1195· 0 citations· 13 references
Medicine
TL;DR
Children with ASD showed a high burden of functional MTHFR variants with genotype-linked metabolic variation and TT homozygosity was associated with ASD risk under recessive model, supporting a threshold-dependent genetic effect on one-carbon metabolism.
The findings suggest no significant association between the HTR2A rs6313 and ASD susceptibility in the Jordanian population, and emphasize the need for larger, multi-marker studies to account for regional genetic diversity.
Wiam Khalil, Elaf Adel Al-Dalabeeh, M. Zihlif· Drug Metabolism and Personal...· 0 citations
Polyendocrine Metabolic Ovarian Syndrome (PMOS) is characterized by diverse endocrine and metabolic abnormalities. Patients differ substantially in obesity, insulin resistance, and cardiometabolic risk. Homocysteine (HCY) is associated with insulin resistance and metabolic abnormalities in patients with PMOS, and the m...
Li-Dong Zhao, Pei-Pei Li, Jin-Hua Li et al.· Journal of Ovarian Research· 0 citations
Background: Major depressive disorder (MDD) arises from genetic and environmental factors. We evaluated functional variation in methylenetetrahydrofolate reductase (MTHFR), circulating MTHFR protein, and homocysteine (HCY) in Mexican-Mestizo participants. Methods: We analyzed 1507 individuals across four cohorts: a pri...
Miriam Pavelth Casillas-Ávila, C. Toledo-Lozano, L. Á. Montes Almanza et al.· Behavioral Science· 0 citations
Although no statistically significant genetic associations were identified in the present cohort, the bioinformatics findings suggest that these loci remain biologically relevant within Wnt-related pathways.
Semra Uğur, E. Akbaş· Molecular Biology Reports· 0 citations
Autism Spectrum Disorder (ASD) is a complex and highly heterogeneous neurodevelopmental disorder. Among various contributing factors, oxidative stress plays a major role in ASD pathophysiology. The study of antioxidant genes, therefore, may contribute to revealing important aspects of ASD. The Superoxide Dismutase (SOD...
Pallabi Adak, Samidh Sankar Chakraborty, A. Bandyopadhyay et al.· Gene· 0 citations
Background: Retinoblastoma (RB) is the most common malignant intraocular tumor in childhood. Although germline and somatic alterations in RB1 contribute to RB development, additional genetic factors may influence susceptibility. Methylenetetrahydrofolate reductase (MTHFR) participates in folate metabolism and DNA synth...
José de Jesús Pérez-Becerra, Juan Antonio Ramírez-Corona, David Fernández-Sánchez et al.· Genes· 0 citations
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