Normal allele: AA
Polymorphism can lead to elevated homocysteine levels independent of folic acid, vitamin B12 or B6 levels. It is a risk factor for neural tube defects and Down syndrome in the setting of higher homocysteine levels.
Polymorphism rs1801394 is related to topics like this:
Research and publications:
10930360 Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome
15979034 Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.
18199722 Dietary vitamin B6 intake and the risk of colorectal cancer
18203168 Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts
18521744 BRCA1 promoter methylation is associated with increased mortality among women with breast cancer
19376481 One-carbon metabolism and breast cancer: an epidemiological perspective
19493349 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
19936946 Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer
20099281 Blood leukocyte DNA hypomethylation and gastric cancer risk in a high-risk Polish population.
21071884 An overview of genetic polymorphisms and pancreatic cancer risk in molecular epidemiologic studies
21146954 Genes and abdominal aortic aneurysm
21349258 Folate and choline metabolism gene variants and development of uterine cervical carcinoma.
21610500 Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism.
21688148 Polymorphic variants of genes involved in homocysteine metabolism in celiac disease.
21747588 Genetic variation in genes involved in folate and drug metabolism in a south Indian population.
21748308 Genetic variants in the folate pathway and risk of childhood acute lymphoblastic leukemia.
21857689 Folate and vitamin B12 in idiopathic male infertility.
22116453 Folate and vitamin B12-related genes and risk for omphalocele.
22175024 Pathogenesis of preeclampsia: the genetic component.
22373437 Identification of functional genetic variation in exome sequence analysis.
22496743 Genetic variant of AMD1 is associated with obesity in urban Indian children.
22792358 Association between genetic variants in DNA and histone methylation and telomere length.
22992668 Pharmacogenomics knowledge for personalized medicine.
23401104 Folate-genetics and colorectal neoplasia: what we know and need to know next.
23446900 One-carbon metabolism factors and leukocyte telomere length.
24048206 Neural tube defects, folic acid and methylation.
24261678 Methionine synthase reductase A66G polymorphism and leukemia risk: evidence from published studies.
25293959 Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects.
25671679 Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women.