Neural tube defects
At a minimum, these SNPs are known to be related, and others may also be
Neural tube defects (NTDs) are a group of conditions in which an opening in the spinal cord or brain remains from early in human development. In the 3rd week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo begin to change shape and form the neural tube. When the neural tube does not close completely, an NTD develops. Specific types include: spina bifida affecting the spine, anencephaly resulting in little to no brain, encephalocele affecting the skull, and iniencephaly which results in severe neck problems. NTDs are one of the most common birth defects, affecting over 300,000 births each year worldwide.Wikipedia
NTDs are caused by complex interactions of genetic, life style (in particular, diet) and environmental factors. Perhaps the best known example of a life style factor is maternal folate status, which has received substantial attention for over 40 years.
The mutations in folate-related genes that may be associated with altered risk for neural tube defects include the following:
- rs1801133, MTHFR 677T>C (also known as A222V)
- rs2236225, MTHFD1 11958G > A
- rs1801131, MTHFR 1298A > C
- rs1051266, SLC19A1 80A > G
- rs1801394, MTRR 66A > G
For a list of studies associated with each mutation, see Table 2 in [PMID 24048206
].
