Literature DB >> 12180146

Spina bifida and folate-related genes: a study of gene-gene interactions.

Raffaella de Franchis1, Lorenzo D Botto, Gianfranco Sebastio, Roberta Ricci, Achille Iolascon, Valeria Capra, Generoso Andria, Pierpaolo Mastroiacovo.   

Abstract

PURPOSE: To assess whether interactions of common alleles of two folate genes contribute to spina bifida risk.
METHODS: Case-control study, comparing 203 children with spina bifida to 583 controls.
RESULTS: Homozygosity for the 677C-T allele of 5,10-methylenetetrahydrofolate reductase (MTHFR) alone was associated with an odds ratio for spina bifida of 1.57 (95% confidence interval [CI], 1.02-2.38). For the 844ins68 allele of cystathionine-beta-synthase alone, the odds ratio was 0.83 (95% CI, 0.39-1.64). For the joint genotype, the odds ratio was 3.69 (95% CI, 1.04-13.50).
CONCLUSIONS: Interactions between common alleles of folate genes might contribute to the risk for spina bifida.

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Year:  2002        PMID: 12180146     DOI: 10.1097/00125817-200205000-00005

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  6 in total

1.  Genetic studies of the cystathionine beta-synthase gene and myelomeningocele.

Authors:  Melissa M Tilley; Hope Northrup; Kit Sing Au
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2011-09-28

2.  Exome analysis in an Estonian multiplex family with neural tube defects-a case report.

Authors:  Liina Pappa; Mart Kals; Paula Ann Kivistik; Andres Metspalu; Ann Paal; Tiit Nikopensius
Journal:  Childs Nerv Syst       Date:  2017-07-18       Impact factor: 1.475

Review 3.  The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects.

Authors:  Anne M Molloy; Lawrence C Brody; James L Mills; John M Scott; Peadar N Kirke
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2009-04

4.  Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.

Authors:  Carla A Martinez; Hope Northrup; Jone-Ing Lin; Alanna C Morrison; Jack M Fletcher; Gayle H Tyerman; Kit Sing Au
Journal:  Am J Obstet Gynecol       Date:  2009-08-15       Impact factor: 8.661

5.  Innovative approach to identify multigenomic and environmental interactions associated with birth defects in family-based hybrid designs.

Authors:  Xiang-Yang Lou; Ting-Ting Hou; Shou-Ye Liu; Hai-Ming Xu; Feng Lin; Xinyu Tang; Stewart L MacLeod; Mario A Cleves; Charlotte A Hobbs
Journal:  Genet Epidemiol       Date:  2020-09-30       Impact factor: 2.344

6.  Association Between MTHFR Genetic Variants and Multiple Sclerosis in a Southern Iranian Population.

Authors:  Fakhraddin Naghibalhossaini; Hesam Ehyakonandeh; Alireza Nikseresht; Eskandar Kamali
Journal:  Int J Mol Cell Med       Date:  2015
  6 in total

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