Chedraui et al (2014) examined the prevalence of the MTHFR C677T and A1298C mutations in 150 nulliparous pregnant women diagnosed with pre-eclampsia (PE) verse 150 control women. 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 significantly associated with an increased risk of PE. This was shown through an increased frequency of this genotype in the case group compared controls, presenting with 15.3% verse 0.7% of 1298CC cases respectively.
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.
Results regarding the C677T were absent in this study, although stated by the study as being tested. Therefore, it is unknown if the C677T was found to be insignificant in the presentation of PE, 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 occurrence beyond the A1298C alone.