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Article

Folate and vitamin B12-related genes and risk for omphalocele.

Human genetics - 1 May 2012

Mills James L, Carter Tonia C, Kay Denise M, Browne Marilyn L, Brody Lawrence C, Liu Aiyi, Romitti Paul A, Caggana Michele, Druschel Charlotte M

Abstract excerpt

Both taking folic acid-containing vitamins around conception and consuming food fortified with folic acid have been reported to reduce omphalocele rates. Genetic factors are etiologically important in omphalocele as well; our pilot study showed a relationship with the folate metabolic enzyme gene methylenetetrahydrofolate reductase (MTHFR). We studied 169 non-aneuploid omphalocele cases and 761 unaffected,...

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Share to Folic Acid
Share to Homocysteine
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Methylenetetrahydrofolate Reductase (NADPH2)

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Share to Receptors, Cell Surface

Share to Vitamin B 12

Source

Open in PubMed Open full text

Identifiers

PMID: 22116453
DOI: 10.1007/s00439-011-1117-3
PMCID: PMC3374579

Genes

BHMT
MTHFR
TCN2

Variants

rs1801131

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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