Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project

NaTasha D Hollis; Emily G Allen; Tiffany Renee Oliver; Stuart W Tinker; Charlotte Druschel; Charlotte A Hobbs; Leslie A O'Leary; Paul A Romitti; Marjorie H Royle; Claudine P Torfs; Sallie B Freeman; Stephanie L Sherman; Lora J H Bean

doi:10.1002/ajmg.a.35796

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Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project

Journal article

Peer reviewed

Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project

NaTasha D Hollis, Emily G Allen, Tiffany Renee Oliver, Stuart W Tinker, Charlotte Druschel, Charlotte A Hobbs, Leslie A O'Leary, Paul A Romitti, Marjorie H Royle, Claudine P Torfs, …

American journal of medical genetics. Part A, Vol.161A(3), pp.438-444

03/2013

DOI: 10.1002/ajmg.a.35796

PMCID: PMC3607196

PMID: 23401135

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https://www.ncbi.nlm.nih.gov/pmc/articles/3607196View

Open Access

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.

Humans

Infant

Risk

Meiosis

Folic Acid - administration & dosage

Case-Control Studies

Down Syndrome - prevention & control

Down Syndrome - genetics

Adult

Female

Chromosomes, Human, Pair 21

Dietary Supplements

Nondisjunction, Genetic

Preconception Care

Details

Title: Subtitle: Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project
Creators: NaTasha D Hollis - Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA
Emily G Allen
Tiffany Renee Oliver
Stuart W Tinker
Charlotte Druschel
Charlotte A Hobbs
Leslie A O'Leary
Paul A Romitti
Marjorie H Royle
Claudine P Torfs
Sallie B Freeman
Stephanie L Sherman - Emory University
Lora J H Bean
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.161A(3), pp.438-444
DOI: 10.1002/ajmg.a.35796
PMID: 23401135
PMCID: PMC3607196
NLM abbreviation: Am J Med Genet A
ISSN: 1552-4825
eISSN: 1552-4833
Publisher: United States
Grant note: R01 HD38979 / NICHD NIH HHS P30 ES005605 / NIEHS NIH HHS R01 HD038979 / NICHD NIH HHS
Language: English
Date published: 03/2013
Academic Unit: Epidemiology; Biostatistics
Record Identifier: 9983995168902771

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