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Article

Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts?

American journal of medical genetics. Part A - 15 Jun 2005

Zhu Huiping, Curry Stacey, Wen Shu, Wicker Ned J, Shaw Gary M, Lammer Edward J, Yang Wei, Jafarov Toghrul, Finnell Richard H

Abstract excerpt

Abnormalities in folate and/or homocysteine metabolism may adversely influence embryonic development, leading to the birth of infants with a variety of congenital malformations, including neural tube defects (NTDs) and craniofacial abnormalities. Based upon suggestive evidence that periconceptional folic acid supplementation is effective in preventing a significant proportion of the aforementioned birth defects,...

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Source

Identifiers

PMID: 15887275
DOI: 10.1002/ajmg.a.30739

Genes

BHMT
BHMT2

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts?PMID 15887275Read ↗

Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida.Semantic proximity Read ↗

Altered folate and vitamin B12 metabolism in families with spina bifida offspringSemantic proximity Read ↗

118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.Semantic proximity Read ↗

BHMT gene polymorphisms as risk factors for cleft lip and cleft palate in a Chinese population.Semantic proximity Read ↗

A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.Semantic proximity Read ↗

Nicotinamide N-methyl transferase (NNMT) gene polymorphisms and risk for spina bifida.Semantic proximity Read ↗

Folate pathway and nonsyndromic cleft lip and palate.Semantic proximity Read ↗

Associations between polymorphisms within the thymidylate synthase gene and spina bifida.Semantic proximity Read ↗

Spina bifida and folate-related genes: a study of gene-gene interactions.Semantic proximity Read ↗

Spina bifida as a multifactorial birth defect: Risk factors and genetic underpinningsSemantic proximity Read ↗

Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial clefts.Semantic proximity Read ↗

Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.Semantic proximity Read ↗

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