Family-Based Association Study Between SLC2A1, HK1, and LEPR Polymorphisms With Myelomeningocele in Chile
Author
dc.contributor.author
Suazo, José
Author
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Pardo Vargas, Rosa
es_CL
Author
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Castillo, Silvia
es_CL
Author
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Martin, Luz Maria
es_CL
Author
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Rojas, Francisca
es_CL
Author
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Santos, José Luis
es_CL
Author
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Rotter, Karin
es_CL
Author
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Solar, Margarita
es_CL
Author
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Tapia, Eva
es_CL
Admission date
dc.date.accessioned
2014-01-14T18:05:46Z
Available date
dc.date.available
2014-01-14T18:05:46Z
Publication date
dc.date.issued
2013
Cita de ítem
dc.identifier.citation
Reproductive Sciences 2013 20: 1207
en_US
Identifier
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DOI: 10.1177/1933719113477489
Identifier
dc.identifier.uri
https://repositorio.uchile.cl/handle/2250/129148
General note
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Artículo de publicación ISI
en_US
Abstract
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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 ¼ .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 ¼ .038) and in lower
MM (3.20-fold; P ¼ .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.