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Genome-wide analysis of spina bifida risk variants in a case-control study from Bangladesh. | LitMetric

AI Article Synopsis

  • The study explored genetic factors linked to spina bifida, a severe birth defect, by analyzing DNA samples from families in Bangladesh between 2016 and 2022.
  • Researchers identified three new genetic variants associated with spina bifida through advanced genetic analysis, even though they didn't find any widespread significant variants between cases and controls.
  • The findings suggest these novel genetic markers could provide insights into prevention strategies, but further research with larger sample sizes is necessary to confirm the results.

Article Abstract

Background: Human studies of genetic risk factors for neural tube defects, severe birth defects associated with long-term health consequences in surviving children, have predominantly been restricted to a subset of candidate genes in specific biological pathways including folate metabolism.

Methods: In this study, we investigated the association of genetic variants spanning the genome with risk of spina bifida (i.e., myelomeningocele and meningocele) in a subset of families enrolled from December 2016 through December 2022 in a case-control study in Bangladesh, a population often underrepresented in genetic studies. Saliva DNA samples were analyzed using the Illumina Global Screening Array. We performed genetic association analyses to compare allele frequencies between 112 case and 121 control children, 272 mothers, and 128 trios.

Results: In the transmission disequilibrium test analyses with trios only, we identified three novel exonic spina bifida risk loci, including rs140199800 (SULT1C2, p = 1.9 × 10), rs45580033 (ASB2, p = 4.2 × 10), and rs75426652 (LHPP, p = 7.2 × 10), after adjusting for multiple hypothesis testing. Association analyses comparing cases and controls, as well as models that included their mothers, did not identify genome-wide significant variants.

Conclusions: This study identified three novel single nucleotide polymorphisms involved in biological pathways not previously associated with neural tube defects. The study warrants replication in larger groups to validate findings and to inform targeted prevention strategies.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10963057PMC
http://dx.doi.org/10.1002/bdr2.2331DOI Listing

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