التفاصيل البيبلوغرافية
| العنوان: |
Homocisteína y polimorfismos de cistationina β sintasa y metilentetrahidrofolato reductasa en población sana de Colombia. (Spanish) |
| العنوان البديل: |
Homocysteine and polymorphisms of cystathionine synthase and methylentetrahydrofolate reductase in a healthy population from Colombia. (English) |
| المؤلفون: |
Bermúdez, Marta, Briceño, Ignacio, Gil, Fabián, Bernal, Jaime |
| المصدر: |
Colombia Medica; ene-mar2007, Vol. 38 Issue 1, p46-52, 7p, 5 Charts, 1 Graph |
| مصطلحات موضوعية: |
VASCULAR diseases, METHIONINE, CYSTATHIONINE gamma-lyase, METHYLENETETRAHYDROFOLATE reductase, GENETIC polymorphisms |
| مصطلحات جغرافية: |
COLOMBIA |
| الملخص (بالإنجليزية): |
Introduction: Recently, moderate hyperhomocysteinemia (>17 µM) and the presence of polymorphic variants of the genes involved in methionine metabolism as cystathionine β synthase (CBS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) have been associated with vascular disease. Objectives: The aims of this study were to quantify basal and post methionine load levels of homocysteine in a Colombian healthy population and to identify the frequencies of the allelic variants c.699 C >T (exon 6), c.1080 C>T (exon 10) of CBS, and c.677 C>T (exon 1) of MTHFR. Association studies between these allelic variants and hiperhomocisteinemia were performed. Methods: A group of 102 healthy individuals, without geographic origin, ethnic group or social-economic stratification were studied for polymorphisms c.699 C >T (CBS exon 6), c.1080 C>T (CBS exon 10) and c.677 C>T (MTHFR exon 1) by restriction analysis and the allele frequencies were calculated. Association study was performed using Fisher exact test. Results: Quantification of basal homocysteine levels (10.52 µM + 5.8) and after methionine load (30.14 +16, 20) was performed. Among individuals 8 were identified with moderate hyperhomocysteinemia, one having basal and the seven post methionine load. Post methionine load in males produced values of 32.43 + 8.64 and were significantly different from that of females (p=0.006) who had values of 28.03 + 7.02. Our results showed that homozygous individuals (TT) for the 677 C/T variant have a risk of 5.14 (odds ratio, p=0.034) of being hyperhomocysteinemic. Conclusions: Hyperhomocysteinemic patients were identified by methionine load test. A positive association between homozygous of the polymorphism 677 of MTHFR was found. The frequency of this polymorphism in Colombia is the highest reported in the literature. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): |
Introducción: Durante los últimos años la hiperhomocisteinemia moderada (>17 µM) y la presencia de las variantes polimórficas de los genes comprometidos en el metabolismo de la metionina, como la cistationina β sintasa (CBS) y la metilentetrahidrofolato reductasa (MTHFR), se han asociado con riesgo de enfermedad vascular. Objetivos: Se definieron los niveles de homocisteína basales y post-carga de metionina en una población de 102 personas asintomáticas, y se calcularon las frecuencias de las variantes alélicas c.699 C >T (exón 6) c.1080 C>T (exón 10) de la CBS, y de c.677 C>T (exón 1) de la MTHFR. Se estudió la asociación entre estas variantes alélicas y la hiperhomocisteinemia. Metodología: La homocisteína se cuantificó en ayuno y post-carga de metionina. Se utilizó la técnica de PCR para la amplificación de los exones 6 y 10 de la CBS, 1 de la MTHFR y mediante análisis de restricción, se hallaron las frecuencias alélicas de los polimorfismos c.699 C >T y c.1080 C>T, y de c.677 C>T. El estudio de asociación se hizo mediante la prueba de Chi² corregido con la prueba de Fischer. Resultados: Los niveles medio +2 DE de homocisteína fueron: basal 10.52 µM + 5.8 y post-carga de metionina en 30.14 + 16.20. Se identificaron 8 personas con hiperhomocisteinemia moderada, una basal y siete postcarga de metionina. La comparación entre los valores de homocisteína post-carga de metionina en los hombres 32.43 + 8.64 y las mujeres 28.03 + 7.02 presentó una diferencia significativa (p = 0.006). Estos resultados mostraron que individuos homocigotos T/T para la variante termolábil 677 de la MTHFR tienen un riesgo (Odds ratio) de 5.14 (p = 0.034) de ser hiperhomocisteinémicos. Conclusiones: Se identificaron individuos hiperhomocisteinémicos postcarga de metionina. Se encontró asociación entre los portadores T/T del polimorfismo c.677 de la MTHFR y la hiperhomocisteinemia. La frecuencia de portadores de este polimorfismo es la más alta informada hasta el momento en la literatura. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
