Title:Vitamin B-related Gene Polymorphisms and Cardiovascular Disease
Volume: 22
Issue: 10
Author(s): Maria Efthymia Katsa and Andrea Paola Rojas Gil*
Affiliation:
- Laboratory of Biology and Biochemistry, Department of Nursing, Faculty of Health Sciences, University of Peloponnese, Tripoli, Greece
Keywords:
Hyperhomocysteinemia, vitamin B complex, polymorphisms, cardiovascular disease, transcobalamin I, vitamin B12.
Abstract: Hyperhomocysteinemia is an independent risk factor for atherosclerosis, even in early
childhood. A mutation in genes that code homocysteine metabolism enzymes or deficiency of specific
vitamin cofactors may cause hyperhomocysteinemia. Vitamin B complex has been correlated with
serum homocysteine levels. Any abnormality in its metabolism or nutritional deficiency may lead to
hyperhomocysteinemia. Both vitamin B complex and homocysteine levels are partly genetically
determined. Specifically, the most studied polymorphism is 677T-C in exon 5 of the 5,10-
methylenetetrahydrofolate reductase (MTHFR) gene, which plays an important role in folate’s
metabolism. This polymorphism has been shown to be correlated with hypertension and
cardiovascular disease. Polymorphisms in methylenetetrahydrofolate dehydrogenase (NADP+
dependent) 1-like (MTHFD1L) gene have also been correlated with increased risk for coronary artery
disease. Other common serious polymorphisms regard the area with high linkage disequilibrium,
including the neuroblastoma breakpoint family, NBPF3 gene, and ~ 12-50 kb upstream of the tissue
nonspecific alkaline phosphatase gene. Finally, the polymorphisms which have been mostly associated
with vitamin B12 concentration are the rs11254363 polymorphism at intron 52 of the intrinsic factor
vitamin B12 receptor of the CUBN and the rs526934 polymorphism at intron 8 of transcobalamin I.
To sum up, several polymorphisms have already been associated with vitamin B complexes and
therefore homocysteine level, highlighting the complex nature of vitamin B genetics.
