Polymorphisms of the methylenetetrahydrofolate reductase gene (C677T and A1298C) in nulliparous women complicated with preeclampsia

Autor:	Faustino R. Pérez-López, Gustavo S. Escobar, Luis Hidalgo, Peter Chedraui, Danny Salazar-Pousada, Cecibel Ramirez, Tommaso Simoncini, Andrea R. Genazzani, Alejandro Villao
Rok vydání:	2014
Předmět:	Male medicine.medical_specialty Genotype Homocysteine Endocrinology Diabetes and Metabolism Single-nucleotide polymorphism blood/enzymology/genetics Polymerase Chain Reaction Polymorphism Single Nucleotide Gastroenterology Case-Control Studies Chi-Square Distribution DNA chemistry/genetics Female Genotype Homocysteine blood Humans Infant Newborn Male Methylenetetrahydrofolate Reductase (NADPH2) genetics Polymerase Chain Reaction Polymorphism Restriction Fragment Length Polymorphism Single Nucleotide Pre-Eclampsia blood/enzymology/genetics Pregnancy Young Adult position to Disease Preeclampsia Young Adult chemistry.chemical_compound Endocrinology Pre-Eclampsia blood Pregnancy Internal medicine medicine Humans genetics Genetic Predisposition to Disease Polymorphism Genotyping Methylenetetrahydrofolate Reductase (NADPH2) Chi-Square Distribution biology Infant Newborn Case-control study Infant Obstetrics and Gynecology Single Nucleotide DNA Newborn medicine.disease Molecular biology Restriction Fragment Length chemistry chemistry/genetics Case-Control Studies Methylenetetrahydrofolate reductase biology.protein Female position to Disease Restriction fragment length polymorphism Polymorphism Restriction Fragment Length
Zdroj:	Gynecological Endocrinology. 30:392-396
ISSN:	1473-0766 0951-3590
DOI:	10.3109/09513590.2014.895807
Popis:	To determine the prevalence of C677T and A1298C Single-nucleotide polymorphisms (SNPs) of the MTHFR gene in nulliparous women complicated with preeclampsia (PE).One hundred fifty gestations complicated with PE and their corresponding controls without the disease were recruited for the genotyping of C677T and A1298C polymorphisms of the MTHFR gene using restriction fragment length polymorphism polymerase chain reaction. Secondarily, homocysteine (HCy) plasma levels were measured in preeclamptic women displaying the CC genotype of the A1298C polymorphism (homozygous) and compared to HCy levels determined among controls with the normal AA genotype for the A1298C variant.Only the mutant CC genotype of the A1298C polymorphism was associated to higher risk of presenting PE, as frequency of this genotype was significantly higher among cases than controls (15.3% versus 0.7%, p 0.05). All PE women with a neck circumference ≥32 cm presented the mutant CC A1298C polymorphism as compared to none among preeclamptics with a lower neck circumference (p = 0.0001). Women with the mutant CC A1298C SNP displayed higher plasma HCy levels as compared to controls with normal AA A1298C genotype (8.4 ± 2.6 versus 7.5 ± 2.7 mmoL/L p = 0.04).Prevalence of the CC mutant genotype of the A1298C polymorphism was higher among PE women. This mutation among PE women was related to increased neck circumference and higher HCy levels. Future research should aim at linking these gestational findings with obesity and cardiovascular risk.
Databáze:	OpenAIRE
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