MTHFR and F5 genetic variations have association with preeclampsia in Pakistani patients: a case control study

• DOI: 10.1186/s12881-019-0905-9
• Publication Date: 2019-10-23T12:05:36Z
• Authors: Feriha Fatima Khidri; Yar Muhammad Waryah; Faiza Kamran Ali; Hina Shaikh; Ikram Din Ujjan; Ali Muhammad Waryah
• Keywords: VEGFA; Adult; Vascular Endothelial Growth Factor A; Genotype; QH426-470; Polymorphism, Single Nucleotide; Young Adult; 03 medical and health sciences; 0302 clinical medicine; Gene Frequency; Pre-Eclampsia; Pregnancy; Genetics; Humans; Genetic Predisposition to Disease; Pakistan; Internal medicine; Methylenetetrahydrofolate Reductase (NADPH2); Variants; Factor V; Preeclampsia; RC31-1245; 3. Good health; Case-Control Studies; MTHFR; Female; F5; Research Article

Abstract Background To study the role of single nucleotide variants (SNVs) genes related to preeclampsia in Pakistani pregnant women. Methods After ethical approval and getting informed consent; 250 women were enrolled equally divided into two groups (125 preeclamptic cases 125 normotensive women). Demographic details medical history recorded, 10 ml blood sample was obtained for DNA extraction. The tetra-primer amplification refractory mutation system (ARMS) assays developed assessing three genes; F5 , MTHFR VEGFA . An association six SNVs; :c.1601G > A (rs6025), :c.6665A G (rs6027), : c.665C T (rs1801133), c.1286A C (rs1801131), c.-2055A (rs699947) c.*237C (rs3025039) with determined by using different genetic models. Results Genotyping SNVs revealed that patients :c.665C T, have increased susceptibility (CT versus CC/TT: OR = 2.79, 95% CI 1.18–6.59; P* 0.046 CT/TT vs CC: 2.91, 1.29–6.57; 0.0497, overdominant dominant models, respectively), whereas G, (A/G AA/GG: 0.42, 0.21–0.84; 0.038 model) :c.1286A C, (CC AA: 0.36, 0.18–0.72; 0.0392 codominant significantly decreased risk preeclampsia. A, VEGFA: no relationship disease. Conclusion This is first case control describing protective against any world population. In addition, present confirmed gene variations development patients. Further studies may be required better understand complex mechanism