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

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

SUBMITTER: Khidri FF

PROVIDER: S-EPMC6813118 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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

Khidri Feriha Fatima FF Waryah Yar Muhammad YM Ali Faiza Kamran FK Shaikh Hina H Ujjan Ikram Din ID Waryah Ali Muhammad AM

BMC medical genetics 20191023 1

<h4>Background</h4>To study the role of single nucleotide variants (SNVs) of genes related to preeclampsia in Pakistani pregnant women.<h4>Methods</h4>After ethical approval and getting informed consent; 250 pregnant women were enrolled and equally divided into two groups (125 preeclamptic cases and 125 normotensive pregnant women). Demographic details and medical history were recorded, and 10 ml blood sample was obtained for DNA extraction. The tetra-primer amplification refractory mutation sys ...[more]

PMID: 31646966

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Project description:BACKGROUND: The procoagulant state in cancer increases the thrombotic risk, but also supports tumor progression. To investigate the molecular mechanisms controlling cancer and hemostasis, we conducted a case-control study of genotypic and phenotypic variables of the tissue factor (TF) pathway of coagulation in breast cancer. METHODS: 366 breast cancer patients and 307 controls were genotyped for SNPs (n?=?41) in the F2, F3 (TF), F5, F7, F10, TFPI and EPCR genes, and assayed for plasma coagulation markers (thrombin generation, activated protein C (APC) resistance, D-dimer, antithrombin, protein C, protein S, and TF pathway inhibitor (TFPI)). Associations with breast cancer were evaluated using logistic regression to obtain odds ratios (ORs) and 95% confidence intervals (CIs), or the chi-square test. RESULTS: Four SNPs in F5 (rs12120605, rs6427202, rs9332542 and rs6427199), one in F10 (rs3093261), and one in EPCR (rs2069948) were associated with breast cancer. EPCR rs2069948 was associated with estrogen receptor (ER) and progesterone receptor (PR) positivity, while the SNPs in F5 appeared to follow hormone receptor negative and triple negative patients. The prothrombotic polymorphisms factor V Leiden (rs6025) and prothrombin G20210A (rs1799963) were not associated with breast cancer. High APC resistance was associated with breast cancer in both factor V Leiden non-carriers (OR 6.5, 95% CI 4.1-10.4) and carriers (OR 38.3, 95% CI 6.2-236.6). The thrombin parameters short lag times (OR 5.8, 95% CI 3.7-9.2), short times to peak thrombin (OR 7.1, 95% CI 4.4-11.3), and high thrombin peak (OR 6.1, 95% CI 3.9-9.5) predicted presence of breast cancer, and high D-dimer also associated with breast cancer (OR 2.0, 95% CI 1.3-3.3). Among the coagulation inhibitors, low levels of antithrombin associated with breast cancer (OR 5.7, 95% CI 3.6-9.0). The increased coagulability was not explained by the breast cancer associated SNPs, and was unaffected by ER, PR and triple negative status. CONCLUSIONS: A procoagulant phenotype was found in the breast cancer patients. Novel associations with SNPs in F5, F10 and EPCR to breast cancer susceptibility were demonstrated, and the SNPs in F5 were confined to hormone receptor negative and triple negative patients. The study supports the importance of developing new therapeutic strategies targeting coagulation processes in cancer.

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

Publications

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

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