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Maternal RFC1 Gene Polymorphisms and Neural Tube Defects: A Case-Control Study in Ethiopia.

Hasset Tamirat Molla1, Dawd Gashu1, Barbara Stoecker2

  • 1Center for Food Science and Nutrition, Addis Ababa University, P.O. Box 1176, Addis Ababa 1000, Ethiopia.

Genes
|May 4, 2026
PubMed
Summary

This study found no significant link between maternal RFC-1 gene polymorphisms and neural tube defect (NTD) births in Ethiopia. Further whole-genome sequencing is needed to identify other genetic factors contributing to NTDs.

Keywords:
RFC1 geneneural tube defects (NTD)single nucleotide polymorphism (SNP)

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Area of Science:

  • Genetics and Developmental Biology
  • Human Genetics
  • Public Health Genomics

Background:

  • Neural tube defects (NTDs) have complex etiologies involving genetic, epigenetic, and environmental factors.
  • Ethiopia exhibits high NTD prevalence, necessitating research into genetic determinants.
  • Previous studies on folate metabolism genes, like RFC1, and NTDs yielded inconsistent results.

Purpose of the Study:

  • To investigate the association between RFC-1 gene polymorphisms (rs1131596 and rs1051266) and NTD occurrence in Ethiopian mothers.
  • To assess the role of these specific RFC-1 variants in folate transport efficiency and NTD susceptibility.

Main Methods:

  • A case-control study was conducted in Addis Ababa, Ethiopia, involving 250 mothers (63 cases, 187 controls).
  • Maternal whole blood samples were analyzed using polymerase chain reaction (PCR) and Sanger sequencing.
  • Genetic analysis focused on RFC-1 polymorphisms at loci rs1131596 and rs1051266.

Main Results:

  • Prevalence of heterozygous/homozygous genotypes for rs1131596 was 27.2% (CC: 16.8%).
  • Prevalence of heterozygous/homozygous polymorphisms for rs1051266 was 44.4% (GG: 16.4%).
  • No significant association was found between maternal RFC-1 polymorphisms at these loci and increased odds of NTD births (p=0.601, p=0.225).

Conclusions:

  • Maternal RFC-1 gene polymorphisms at rs1131596 and rs1051266 are not significantly associated with NTD-affected births in the Ethiopian population studied.
  • Comprehensive whole-genome sequencing is recommended to identify novel mutations or polymorphisms contributing to NTD risk in Ethiopia.