(P10-070-24) Association of Maternal Reduced Folate Carrier-1 (RFC1) Gene Polymorphism rs1051266 With Neural Tube Defects in an Ethiopian Population

Objectives: The study aimed to explore the potential association between single nucleotide polymorphisms (SNPs) in Reduced Folate Receptor-1 (RFC1) gene (A80G and G776A) and the occurrence of birth outcome with neural tube defects (NTDs) among an Ethiopian population.

Methods: A case-control study design was employed to investigate the association between NTDs and genetic polymorphisms in RFC1 gene. Whole blood samples were systematically collected from mothers having infants and children affected with NTDs and a control group of mothers with unaffected infants and children. A total of 92 maternal samples were subjected to genetic analysis by PCR and DNA sequencing for RFC1 SNPs rs1131596 (A80G) and rs1051266 (G776A).

Results: Mothers with the GA and AA genotypes (GA: n=16 out of 92 total, AA: n= 19 out of 92 total) of RFC1 SNP rs1051266 (G776A) had a significantly higher incidence of having infants and children with NTDs (p-value = 0.037, OR= 2.783, 95% CI: 1.027- 7.541) than mothers with the GG genotype (n=57 out of 92 total).

Conclusions: The presence of RFC1 gene (G776A) single nucleotide polymorphism may be a potential and prominent risk factor for NTDs in the Ethiopian population. Large scale population study is recommended to further investigate nutrient-gene and possible maternal-offspring interactions.

Funding Sources: Addis Ababa University (SIDA & GeoNutrition Projects)
Oklahoma State University