Evidence map›Paper›PMID 31646966›Full record

ArticleBMC medical genetics2019

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

Feriha Fatima Khidri, Yar Muhammad Waryah, Faiza Kamran Ali, Hina Shaikh, Ikram Din Ujjan, Ali Muhammad Waryah

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Article in BMC medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.8field-weighted citation impact, top 9% of its field
1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

10 citing papers in PubMed, 30 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Feriha Fatima KhidriMolecular Biology and Genetics Department, Medical Research Center, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.
Yar Muhammad WaryahMolecular Biology and Genetics Department, Medical Research Center, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.
Faiza Kamran AliDepartment of Gynaecology and Obstetrics, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.
Hina ShaikhMolecular Biology and Genetics Department, Medical Research Center, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.
Ikram Din UjjanDepartment of Pathology, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.
Ali Muhammad WaryahMolecular Biology and Genetics Department, Medical Research Center, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan. aliwaryah@lumhs.edu.pk.ORCID 0000-0002-2596-9032
Liaquat University of Medical & Health Sciences · PKShaheed Benazir Bhutto University · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTo study the role of single nucleotide variants (SNVs) of genes related to preeclampsia in Pakistani pregnant women.

methodsAfter 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.

resultsGenotyping 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.

conclusionThis 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.

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotideAdultCase-Control StudiesFactor VFemaleGene FrequencyGenotypeHumansMethylenetetrahydrofolate Reductase (NADPH2)PakistanPre-EclampsiaPregnancyVascular Endothelial Growth Factor AYoung AdultFactor VMethylenetetrahydrofolate Reductase (NADPH2)MTHFR protein, humanVascular Endothelial Growth Factor AVEGFA protein, humanF5MTHFRPakistanPreeclampsiaVariantsVEGFA

Identifiers

PMID31646966
PMCPMC6813118
OpenAlexW2982164420

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.