2013
DOI: 10.1177/1933719113477489
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Family-Based Association Study Between SLC2A1, HK1, and LEPR Polymorphisms With Myelomeningocele in Chile

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… Show more

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Cited by 11 publications
(9 citation statements)
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“…Es así como, por ejemplo, en la misma muestra analizada en el presente estudio, hemos reportado una asociación entre variantes de genes relacionados con la homeostasis energética (SLC2A1, HK1 y LEPR) y MM 30 . A pesar que nuestros resultados no encontraron asociación entre variantes del gen MTHFR y la EB, consideramos que la vía metabó-lica del folato no puede aún ser excluida del todo como una causa de MM después de la FAF en Chile.…”
Section: Discussionunclassified
“…Es así como, por ejemplo, en la misma muestra analizada en el presente estudio, hemos reportado una asociación entre variantes de genes relacionados con la homeostasis energética (SLC2A1, HK1 y LEPR) y MM 30 . A pesar que nuestros resultados no encontraron asociación entre variantes del gen MTHFR y la EB, consideramos que la vía metabó-lica del folato no puede aún ser excluida del todo como una causa de MM después de la FAF en Chile.…”
Section: Discussionunclassified
“…Genetic susceptibilities to NTDs in maternal genes related to glucose metabolism have been demonstrated in human studies (Davidson et al, ; Suazo et al, ). The maternal nonsynonymous coding variants HK1 rs748235, LEPR rs1137100, and GLUT1 rs2229682, and the intronic variants LEPR rs2071045 and TCF7L2 rs3814573 may be associated with NTD susceptibility among the American, Irish, and Chilean populations (Davidson et al, ; Carter et al, ; Lupo et al, ; Suazo et al, ).…”
Section: Introductionmentioning
confidence: 99%
“…Genetic susceptibilities to NTDs in maternal genes related to glucose metabolism have been demonstrated in human studies (Davidson et al, ; Suazo et al, ). The maternal nonsynonymous coding variants HK1 rs748235, LEPR rs1137100, and GLUT1 rs2229682, and the intronic variants LEPR rs2071045 and TCF7L2 rs3814573 may be associated with NTD susceptibility among the American, Irish, and Chilean populations (Davidson et al, ; Carter et al, ; Lupo et al, ; Suazo et al, ). Evidence suggests that abnormal glucose homeostasis is also attributable to genetic variants in other genes encoding proteins such as glucokinase regulator ( GCKR ), IGF‐II mRNA‐binding protein ( IGF2BP ), methylthiotransferase family members ( CDKAL1 , CDKN2A/B ), hematopoietically expressed homeobox protein ( HHEX ), transcription factor ( TCF ), ion channel proteins ( KCNQ1 , KCNJ11 ), and fat mass and obesity‐associated protein ( FTO ) (Wu et al, ; Yajnik et al, ; Liu et al, ; Qi et al, ; Bi et al, ; Shu et al, ; Cui et al, ; Ling et al, ; Sim et al, ; Bao et al, ; Li et al, ; Murata‐Mori et al, ).…”
Section: Introductionmentioning
confidence: 99%
“…Several genes known to play a role in glucose homeostasis have been identified and studied to determine their function as well as their relation to NTDs. Genetic studies have evaluated and linked SNPs of glucose transporters with the risk of NTDs (Davidson et al, ; Cormier et al, ; Suazo et al, ; Connealy et al, ). To our knowledge, current research and data are limited to GLUT1 and GLUT3 (Davidson et al, ; Cormier et al, ; Suazo et al, ; Connealy et al, ).…”
Section: Introductionmentioning
confidence: 99%
“…Genetic studies have evaluated and linked SNPs of glucose transporters with the risk of NTDs (Davidson et al, ; Cormier et al, ; Suazo et al, ; Connealy et al, ). To our knowledge, current research and data are limited to GLUT1 and GLUT3 (Davidson et al, ; Cormier et al, ; Suazo et al, ; Connealy et al, ). Lupo et al () found no association for minor alleles of three GLUT2 tagged SNPs with human NTDs in single allele analyses but in a later report described NTD risk associated with a combination of minor alleles of maternal ENPP1 rs1044498 and fetal GLUT2 rs6785233 that is 12.2 kbp upstream from GLUT2 (Lupo et al, ).…”
Section: Introductionmentioning
confidence: 99%