title: Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project.
abstract: Both a lack of maternal folic acid supplementation and the presence of genetic variants that reduce enzyme activity in folate pathway genes have been linked to meiotic nondisjunction of chromosome 21; however, the findings in this area of research have been inconsistent. To better understand these inconsistencies, we asked whether maternal use of a folic acid-containing supplement before conception reduces risk for chromosome 21 nondisjunction. Using questionnaire data from the National Down Syndrome Project, a population-based case-control study, we compared the use of folic acid-containing supplements among mothers of infants with full trisomy 21 due to maternal nondisjunction (n = 702) and mothers of infants born with no major birth defects (n = 983). Using logistic regression, adjusting for maternal age, race/ethnicity, and infant age at maternal interview, we found no evidence of an association between lack of folic acid supplementation and maternal nondisjunction among all case mothers (OR = 1.16; 95% CI: 0.90-1.48). In analyses stratified by meiotic stage and maternal age (<35 or ≥35 years), we found an association among older mothers experiencing meiosis II nondisjunction errors (OR = 2.00; 95% CI: 1.08-3.71). These data suggest that lack of folic acid supplementation may be associated specifically with MII errors in the aging oocyte. If confirmed, these results could account for inconsistencies among previous studies, as each study sample may vary by maternal age structure and proportion of meiotic errors.
authors: Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA.
authors: NaTasha D
authors: ND
authors: Hollis
authors: Emily G
authors: EG
authors: Allen
authors: Tiffany Renee
authors: TR
authors: Oliver
authors: Stuart W
authors: SW
authors: Tinker
authors: Charlotte
authors: C
authors: Druschel
authors: Charlotte A
authors: CA
authors: Hobbs
authors: Leslie A
authors: LA
authors: O'Leary
authors: Paul A
authors: PA
authors: Romitti
authors: Marjorie H
authors: MH
authors: Royle
authors: Claudine P
authors: CP
authors: Torfs
authors: Sallie B
authors: SB
authors: Freeman
authors: Stephanie L
authors: SL
authors: Sherman
authors: Lora J H
authors: LJ
authors: Bean
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D002891:Chromosomes, Human, Pair 21; D019587:Dietary Supplements; D004314:Down Syndrome / Q000235:genetics / Q000517:prevention & control*; D005260:Female; D005492:Folic Acid / Q000008:administration & dosage*; D006801:Humans; D007223:Infant; D008540:Meiosis; D009630:Nondisjunction, Genetic; D016742:Preconception Care; D012306:Risk
chemical_list: D005492:Folic Acid
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