Chedraui et al (2014) examined the prevalence of the MTHFR C677T and A1298C mutations in women pregnant with their first children diagnosed with pre-eclampsia (PE). Homocysteine (Hcy) levels were also measured in women with the homozygous 1298CC mutation. Of both the genes and their polymorphisms, only women with the 1298CC genoptype were found to be associated with an increased risk of PE.
All women with PE and a neck circumference greater than 32cm presented the 1298CC mutation, compared to no women with PE and a neck circumference less than 32cm. When compared to women with the normal 1298AA genotype, women with the 1298CC genotype displayed higher levels of Hcy. Overall, the occurrence of the 1298CC mutation was higher among women with PE, which was also linked to increased circumference of the neck and Hcy levels.
It is unknown from this research if the C677T was not found to play a part in PE in this study, or if it was not investigated to the same degree that the A1298C mutation was. If this is so, there is a potential affect that the C677T mutation could also have on PE prevalence.