Normal allele: CC
Breakage causes deficiency of vitamin B12 - methylcobalamin cblE and impaired methylation. Supplementation with increased doses of vitamin B12 in the active form is required. The polymorphism is also associated with the risk of pancreatic cancer.
Polymorphism rs10380 is related to topics like this:
Research and publications:
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.
20445798 Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.
21071884 An overview of genetic polymorphisms and pancreatic cancer risk in molecular epidemiologic studies
21748308 Genetic variants in the folate pathway and risk of childhood acute lymphoblastic leukemia.
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.
23446900 One-carbon metabolism factors and leukocyte telomere length.
33195260 Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.