|| common in complete genomics
|?|| (A;A) (A;G) (G;G) ||28|
| Disease Association
|| Defects in MTRR are the cause of methylcobalamin deficiency type E (cblE) (MIM:236270); also known as vitamin B12- responsive homocystinuria or homocystinuria-megaloblastic anemia complementation type E. Patients who are defective in reductive activation of methionine synthase exhibit megaloblastic anemia, developmental delay, hypomethioninemia, and hyperhomocysteinemia, a risk factor in cardiovascular disease and neural tube defects. It is an autosomal recessive disease.
[PMID 19493349] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
[PMID 21211571] MTHFR and MTRR genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from the Czech Republic
[PMID 19064578] No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.
[PMID 19112534] Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma.
|| not reviewed
|| Insufficiently evaluated not reviewed