ArticleReproductive sciences (Thousand Oaks, Calif.)2013
Family-based association study between SLC2A1, HK1, and LEPR polymorphisms with myelomeningocele in Chile.
Article in Reproductive sciences (Thousand Oaks, Calif.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Association betweenFrontiers in neurology · 2024Pooled it
- Bayesian polygenic risk estimation approach to nuclear families with discordant sib-pairs for myelomeningocele.PloS one · 2024Article
- Identification of the Key Regulators of Spina Bifida Through Graph-Theoretical Approach.Frontiers in genetics · 2021Article
- MiR-302 Regulates Glycolysis to Control Cell-Cycle during Neural Tube Closure.International journal of molecular sciences · 2020Article
- Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes.Neural development · 2020Article
- A Proteomics Signature of Mild Hypospadias: A Pilot Study.Frontiers in pediatrics · 2020Article
- Association of facilitated glucose transporter 2 gene variants with the myelomeningocele phenotype.Birth defects research. Part A, Clinical and molecular teratology · 2015Article
- Novel pancreas organogenesis markers refine the pancreatic differentiation roadmap of embryonic stem cells.Stem cell reviews and reports · 2014Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Obese/diabetic mothers present a higher risk to develop offspring with myelomeningocele (MM), evidence supporting the role of energy homeostasis-related genes in neural tube defects. Using polymerase chain reaction-restriction fragment length polymorphism, we have genotyped SLC2A1, HK1, and LEPR single-nucleotide polymorphisms in 105 Chilean patients with MM and their parents in order to evaluate allele-phenotype associations by means of allele/haplotype transmission test (TDT) and parent-of-origin effects. We detected an undertransmission for the SLC2A1 haplotype T-A (rs710218-rs2229682; P = .040), which was not significant when only lower MM (90% of the cases) was analyzed. In addition, the leptin receptor rs1137100 G allele showed a significant increase in the risk of MM for maternal-derived alleles in the whole sample (2.43-fold; P = .038) and in lower MM (3.20-fold; P = .014). Our results support the role of genes involved in energy homeostasis in the risk of developing MM, thus sustaining the hypothesis of diverse pathways and genetic mechanisms acting in the expression of such birth defect.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.