Distribution Of Alleles And Polymorphisms Of Folate Cycle Genes In Children With Congenital Malformations Of The Brain And Visual Organs
DOI:
https://doi.org/10.64149/J.Ver.8.18s.414-419Keywords:
Congenital Malformations, Brain, Ophthalmic Pathology, Folate Cycle, Genetic Polymorphism, MTHFR, MTR, MTRR.Abstract
Objective: To perform a comparative analysis of the distribution of alleles and polymorphisms of folate cycle genes in children with congenital malformations of the brain (CMB), including those combined with ophthalmic pathology, and in healthy children.
Materials and Methods: The study included 101 children with CMB (59 with isolated forms and 42 with combined brain and ocular anomalies) and 58 healthy children in the control group. The examination was carried out at the Multidisciplinary Clinic of Samarkand State Medical University. Molecular-genetic analysis of maternal blood samples was performed to determine alleles and polymorphisms of folate cycle genes (MTHFR C677T, MTHFR A1298C, MTR A2756G, MTRR A66G).
Results: A statistically significant association was identified between the polymorphisms MTHFR A1298C and MTHFR C677T and the risk of developing combined congenital malformations of the brain and visual organs. Carriage of the variant C-allele of MTHFR A1298C, in both allelic and dominant models, increased the odds of developing pathology. The MTHFR C677T polymorphism also demonstrated a trend toward elevated risk, although the effect was less pronounced.
Conclusion: The findings support the role of folate cycle gene variants in the pathogenesis of congenital malformations of the central nervous system and visual organs. Determination of maternal genetic profiles may be used for refined periconceptional screening and for developing targeted preventive programs.
