|Disease Association||Defects in BHMT could lead to hyperhomocysteinemia. But such a defect has not yet been observed. Hyperhomocysteinemia is an independent risk factor for the development of arteriosclerotic vascular disease.|
[PMID 28134761] Genetic Variation in Choline-Metabolizing Enzymes Alters Choline Metabolism in Young Women Consuming Choline Intakes Meeting Current Recommendations
[PMID 19493349] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
[PMID 19737740] Associations of folate and choline metabolism gene polymorphisms with orofacial clefts
[PMID 21429654] Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility
[PMID 22116453] Folate and vitamin B12-related genes and risk for omphalocele
[PMID 16816108] Common genetic polymorphisms affect the human requirement for the nutrient choline.
[PMID 17613168] Gene response elements, genetic polymorphisms and epigenetics influence the human dietary requirement for choline.
[PMID 18203168] Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.
[PMID 18230680] Choline metabolism and risk of breast cancer in a population-based study.
[PMID 18457970] Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: common gene sequence variation and functional characterization.
[PMID 18521744] BRCA1 promoter methylation is associated with increased mortality among women with breast cancer.
[PMID 18708404] B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer.
[PMID 18789905] Genetic polymorphisms in methyl-group metabolism and epigenetics: lessons from humans and mouse models.
[PMID 19048631] Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.
[PMID 19261726] Epigenetic mechanisms for nutrition determinants of later health outcomes.
[PMID 19376481] One-carbon metabolism and breast cancer: an epidemiological perspective.
[PMID 19635752] High intakes of choline and betaine reduce breast cancer mortality in a population-based study.
[PMID 20111745] Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.
[PMID 21349258] Folate and choline metabolism gene variants and development of uterine cervical carcinoma.
[PMID 21688148] Polymorphic variants of genes involved in homocysteine metabolism in celiac disease.
[PMID 22183302] Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.
|qualified_impact||Insufficiently evaluated not reviewed|
[PMID 22833659] Gender and single nucleotide polymorphisms in MTHFR, BHMT, SPTLC1, CRBP2, CETP, and SCARB1 are significant predictors of plasma homocysteine normalized by RBC folate in healthy adults
[PMID 27488260] Dietary choline and betaine intake, choline-metabolising genetic polymorphisms and breast cancer risk: a case-control study in China.