Sunday, July 9, 2017

Common folate gene variant, MTHFR C677T, is associated with higher homocysteine levels

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757723/

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A commonly carried genetic variant – a single nucleotide polymorphism (SNP) (C677T locus; rs1801133) in the well-known candidate gene methylenenetetrahydrofolate reductase (MTHFR) on chromosome 1 – explains a fair proportion (24–53%) of this genetic variance (Bathum et al., 2007). The C677T change in the MTHFR gene replaces cytosine with thymine at base position 677. 

Carriers of the T allele have a less active MTHFR enzyme and higher homocysteine levels, especially when their folate levels are low. This has been consistently shown in several genome-wide association studies 

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