Preliminary population study of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism determination in a pilot group of students from the university of Rosario

Zaniah N. González-Galofre, Victoria Villegas, María Martínez-Agüero

Resultado de la investigación: Contribución a RevistaArtículo

4 Citas (Scopus)

Resumen

Introduction: The 5, 10-methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme in folate metabolism; their polymorphisms have been associated with heart disease risk increase, obstetric problems, neural tube defects in fetuses and cancer susceptibility. This gene has a single nucleotide polymorphism, a C-T change at nucleotide 677, which affects significantly its enzymatic activity. Objective: because of the biological importance of this enzyme and the Colombian population genetic heterogeneity characteristic, a study was performed to determine allele and genotype frequencies of MTHFR C677T polymorphism in healthy individuals, taking into account that in Colombia there are only studies that have involved case control methodology. Methods: we analyzed this polymorphism trough the amplification of the DNA of a 206 students sample population. Additionally, Colombian overall frequencies were calculated, using data from healthy controls reported in other studies. Results: a Hardy-Weinberg disequilibrium was found in the sample tested. For the Colombian data, we found that the global population was in equilibrium. Conclusion: T allele population frequency seems to be under positive selection pressure, which is reflected in the population allele increase, despite its deleterious effect. A Spanish study reported similar results and identified folic acid supplementation on expectant mothers as a probably cause of this change.
Idioma originalEnglish (US)
Páginas (desde-hasta)7-21
Número de páginas15
PublicaciónRevista Ciencias de la Salud
EstadoPublished - ene 1 2010

Huella dactilar

Methylenetetrahydrofolate Reductase (NADPH2)
Students
university
Folic Acid
Gene Frequency
Population
Group
student
expectant mother
Colombia
Genetic Heterogeneity
Neural Tube Defects
Population Genetics
Population Characteristics
Enzymes
Obstetrics
obstetrics
Single Nucleotide Polymorphism
Heart Diseases
heart disease

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title = "Preliminary population study of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism determination in a pilot group of students from the university of Rosario",
abstract = "Introduction: The 5, 10-methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme in folate metabolism; their polymorphisms have been associated with heart disease risk increase, obstetric problems, neural tube defects in fetuses and cancer susceptibility. This gene has a single nucleotide polymorphism, a C-T change at nucleotide 677, which affects significantly its enzymatic activity. Objective: because of the biological importance of this enzyme and the Colombian population genetic heterogeneity characteristic, a study was performed to determine allele and genotype frequencies of MTHFR C677T polymorphism in healthy individuals, taking into account that in Colombia there are only studies that have involved case control methodology. Methods: we analyzed this polymorphism trough the amplification of the DNA of a 206 students sample population. Additionally, Colombian overall frequencies were calculated, using data from healthy controls reported in other studies. Results: a Hardy-Weinberg disequilibrium was found in the sample tested. For the Colombian data, we found that the global population was in equilibrium. Conclusion: T allele population frequency seems to be under positive selection pressure, which is reflected in the population allele increase, despite its deleterious effect. A Spanish study reported similar results and identified folic acid supplementation on expectant mothers as a probably cause of this change.",
author = "Gonz{\'a}lez-Galofre, {Zaniah N.} and Victoria Villegas and Mar{\'i}a Mart{\'i}nez-Ag{\"u}ero",
year = "2010",
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journal = "Revista Ciencias de la Salud",
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Preliminary population study of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism determination in a pilot group of students from the university of Rosario. / González-Galofre, Zaniah N.; Villegas, Victoria; Martínez-Agüero, María.

En: Revista Ciencias de la Salud, 01.01.2010, p. 7-21.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - Preliminary population study of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism determination in a pilot group of students from the university of Rosario

AU - González-Galofre, Zaniah N.

AU - Villegas, Victoria

AU - Martínez-Agüero, María

PY - 2010/1/1

Y1 - 2010/1/1

N2 - Introduction: The 5, 10-methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme in folate metabolism; their polymorphisms have been associated with heart disease risk increase, obstetric problems, neural tube defects in fetuses and cancer susceptibility. This gene has a single nucleotide polymorphism, a C-T change at nucleotide 677, which affects significantly its enzymatic activity. Objective: because of the biological importance of this enzyme and the Colombian population genetic heterogeneity characteristic, a study was performed to determine allele and genotype frequencies of MTHFR C677T polymorphism in healthy individuals, taking into account that in Colombia there are only studies that have involved case control methodology. Methods: we analyzed this polymorphism trough the amplification of the DNA of a 206 students sample population. Additionally, Colombian overall frequencies were calculated, using data from healthy controls reported in other studies. Results: a Hardy-Weinberg disequilibrium was found in the sample tested. For the Colombian data, we found that the global population was in equilibrium. Conclusion: T allele population frequency seems to be under positive selection pressure, which is reflected in the population allele increase, despite its deleterious effect. A Spanish study reported similar results and identified folic acid supplementation on expectant mothers as a probably cause of this change.

AB - Introduction: The 5, 10-methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme in folate metabolism; their polymorphisms have been associated with heart disease risk increase, obstetric problems, neural tube defects in fetuses and cancer susceptibility. This gene has a single nucleotide polymorphism, a C-T change at nucleotide 677, which affects significantly its enzymatic activity. Objective: because of the biological importance of this enzyme and the Colombian population genetic heterogeneity characteristic, a study was performed to determine allele and genotype frequencies of MTHFR C677T polymorphism in healthy individuals, taking into account that in Colombia there are only studies that have involved case control methodology. Methods: we analyzed this polymorphism trough the amplification of the DNA of a 206 students sample population. Additionally, Colombian overall frequencies were calculated, using data from healthy controls reported in other studies. Results: a Hardy-Weinberg disequilibrium was found in the sample tested. For the Colombian data, we found that the global population was in equilibrium. Conclusion: T allele population frequency seems to be under positive selection pressure, which is reflected in the population allele increase, despite its deleterious effect. A Spanish study reported similar results and identified folic acid supplementation on expectant mothers as a probably cause of this change.

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