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Gene-Folic Acid Interactions and Risk of Conotruncal Heart Defects: Results from the National Birth Defects Prevention Study.
Webber, Daniel M; Li, Ming; MacLeod, Stewart L; Tang, Xinyu; Levy, Joseph W; Karim, Mohammad A; Erickson, Stephen W; Hobbs, Charlotte A.
Afiliación
  • Webber DM; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Li M; Department of Epidemiology and Biostatistics, Indiana University at Bloomington, Bloomington, IN 47405, USA.
  • MacLeod SL; Division of Birth Defects Research, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA.
  • Tang X; Biostatistics Program, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA.
  • Levy JW; Department of Obstetrics and Gynecology, Wayne State University, Detroit, MI 48202, USA.
  • Karim MA; Department of Child Health, College of Medicine, University of Arizona, Phoenix, AZ 85004, USA.
  • Erickson SW; Department of Neurology, Sections on Neurodevelopmental Disorders, Barrow Neurological Institute at Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Hobbs CA; Center for Genomics in Public Health and Medicine, RTI International, Research Triangle Park, NC 27709, USA.
  • The National Birth Defects Prevention Study; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.
Genes (Basel) ; 14(1)2023 01 09.
Article en En | MEDLINE | ID: mdl-36672920
Conotruncal heart defects (CTDs) are heart malformations that affect the cardiac outflow tract and typically cause significant morbidity and mortality. Evidence from epidemiological studies suggests that maternal folate intake is associated with a reduced risk of heart defects, including CTD. However, it is unclear if folate-related gene variants and maternal folate intake have an interactive effect on the risk of CTDs. In this study, we performed targeted sequencing of folate-related genes on DNA from 436 case families with CTDs who are enrolled in the National Birth Defects Prevention Study and then tested for common and rare variants associated with CTD. We identified risk alleles in maternal MTHFS (ORmeta = 1.34; 95% CI 1.07 to 1.67), maternal NOS2 (ORmeta = 1.34; 95% CI 1.05 to 1.72), fetal MTHFS (ORmeta = 1.35; 95% CI 1.09 to 1.66), and fetal TCN2 (ORmeta = 1.38; 95% CI 1.12 to 1.70) that are associated with an increased risk of CTD among cases without folic acid supplementation. We detected putative de novo mutations in genes from the folate, homocysteine, and transsulfuration pathways and identified a significant association between rare variants in MGST1 and CTD risk. Results suggest that periconceptional folic acid supplementation is associated with decreased risk of CTD among individuals with susceptible genotypes.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ácido Fólico / Cardiopatías Congénitas Tipo de estudio: Etiology_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ácido Fólico / Cardiopatías Congénitas Tipo de estudio: Etiology_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Suiza