article · Genes
BACKGROUND: ), have been investigated for the potential associations with NTDs, but findings throughout the literature remain inconsistent and inconclusive. OBJECTIVE: The aim of this study was to determine an association of RFC-1 polymorphism at rs1131596 and rs1051266 loci (functional variants previously implicated in folate transport efficiency and NTD susceptibility) among mothers with the occurrence of NTDs in their offspring in Ethiopia. METHODS: A case-control study involving 250 mothers (187 controls and 63 cases) of children with or without NTDs was conducted in Addis Ababa, Ethiopia from April 2022, to September 2024. A total of 250 maternal whole blood samples were systematically collected and subjected to genetic analysis at loci rs1131596 and rs1051266 by polymerase chain reaction (PCR) and Sanger sequencing. RESULTS: = 0.225 respectively) higher odds for NTD births. CONCLUSIONS: gene polymorphisms and NTD-affected births. Comprehensive whole-genome sequencing of affected off-spring is essential to identify specific mutations or polymorphisms that may individually or collaboratively affect the risk of NTDs in the Ethiopian context.
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DOI: 10.3390/genes17040478
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