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Inicio Revista Colombiana de Psiquiatría Polimorfismos en el gen del transportador de serotonina (SLC6A4) y el trastorno ...
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Vol. 41. Issue 1.
Pages 86-100 (March 2012)
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Vol. 41. Issue 1.
Pages 86-100 (March 2012)
Artículos originales
DOI: 10.1016/S0034-7450(14)60070-6
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Polimorfismos en el gen del transportador de serotonina (SLC6A4) y el trastorno afectivo bipolar en dos centros regionales de salud mental del Eje Cafetero*
Polymorphism in the Serotonin Transporter Gene (SLC6A4) and Emotional Bipolar Disorder in Two Regional Mental Health Centers from the Eje Cafetero (Colombia)
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Lucero Rengifo Ramos1,
Corresponding author
cenbiotep@utp.edu.co

Correspondencia: Lucero Rengifo Ramos, Centro de Biología Molecular y Biotecnología, Universidad Tecnológica de Pereira, Vereda La Julita, Pereira, Risaralda, Colombia
, Duverney Gaviria Arias1, Liliana Salazar Salazar2, Juan Pablo Vélez3, Stella Lozano Pardo4
1 Magíster en Biología Molecular y Biotecnología, Centro de Biología Molecular y Biotecnología de la Universidad Tecnológica de Pereira, vereda La Julita, Pereira, Risaralda, Colombia
2 Psiquiatra, directora científica del Instituto Especializado en Salud Mental, Clínica El Prado, Armenia, Quindío, Colombia
3 Médico, subdirector científico del Hospital Mental de Risaralda (HOMERIS), Pereira, Risaralda, Colombia
4 Psicóloga, estudiante de Maestría en Biología Molecular y Biotecnología de la Universidad Tecnológica de Pereira, vereda La Julita, Pereira, Risaralda, Colombia
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Resumen
Introducción

Los polimorfismos indel en la región promotora y los polimorfismos de tamaño en el intrón 2 del gen transportador de serotonina se han asociado con el trastorno afectivo bipolar 1 (TAB 1) en diferentes poblaciones. El objetivo fue analizar las frecuencias genotípicas y alélicas en ambas regiones del gen en un estudio de casos y controles en Risaralda y Quindío (Colombia) para encontrar una asociación con TAB 1 y compararlas con estudios similares.

Métodos

Se analizaron 133 pacientes y 120 controles. Con PCR se analizaron los polimorfismos indel L y S de la región promotora y los de tamaño (VNTR) STin 2.10 y STin 2.12 del segundo intrón del gen SLC6A4.

Resultados

Las frecuencias genotípicas y alélicas en los polimorfismos S y L fueron muy similares en casos y controles. Sin embargo, el genotipo LL se encontró incrementado no significativamente en la población general con TAB 1 (OR=1,89; IC95%= 1,1-3,68) y al separarla por género. Los OR para este genotipo en la población general (OR=1,89; IC95%=1,1-3,68) en mujeres (OR=2,22; IC95%=1,04-5,66) y en hombres (OR=1,62; IC95%=0,71-4,39). En los polimorfismos VNTR STin 2.10 y STin2.212 tampoco se observaron diferencias significativas entre las frecuencias genotípicas y alélicas.

Conclusiones

No encontramos asociación entre los polimorfismos de las regiones 5-HTTLPR y el intrón 2 del gen transportador de serotonina en los pacientes con TAB 1, ni en la población total, ni al separarla por género. Nuestros resultados son similares a los encontrados en poblaciones caucásicas y difieren de los encontrados en asiáticas y brasileras.

Palabras clave:
Transportador de serotonina
promotor
segundo intron
frecuencias genotipicas
frecuencias alélicas
Abstract
Introduction

The indel polymorphisms in the promoting region and the 2nd intron polymorphisms in the serotonin transporter gene (SLC6A4) have been associated to bipolar disorder 1 (BD1) in several population studies. The objective was to analyze the genotypic and allelic frequencies in both gene regions in a study of cases and controls with individuals from Risaralda and Quindío (Colombia) so as to establish possible associations to BD1, and compare results with previous and similar studies.

Methods

133 patients and 120 controls were studied. L and S indel polymorphisms in the promoting region were analyzed by PCR, together with VNTR STin2.10 and STin 2.12 VNTRs polymorphisms in the 2nd intron of the SL-C6A4 gene

Results

Genotypic and allelic frequencies for the S and L polymorphisms were similar both in cases and controls. However, the LL genotype was significantly increased both in BD1 population (OR=1.89; CI95%=1.1-3.68), and when discriminated by gender. This particular genotype in general population is OR=2.22; IC95%=1.04-5.66 for women, and OR=1.62; IC 95%=0.71-4.39 for men. No significant genotypic and allelic differences were found for VNTR STin2.10 and STin 2.12. polymorphisms.

Conclusions

No association was found between polymorphisms of 5-HTTLPR polymorphisms and the 2nd intron of the serotonin transporting gene in general patients with BD1, nor when compared by gender. Our results are similar to those reported for Caucasian populations and differ from those of Asian and Brazilian populations.

Key words:
Serotonin transporter
promoter
2nd intron
genotype frequency
allelic frequency
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Conflictos de interés: Los autores manifiestan que no tienen conflictos de interés en este artículo.

*

Este proyecto fue financiado por la Red de Universidades Públicas del Eje Cafetero ‘Alma Mater’. Resultados parciales de esta investigación fueron presentados en el XLV Congreso Nacional de Ciencias Biológicas realizado en Armenia, Quindío, entre el 5 y el 8 de octubre. Ponente: Stella Lozano Pardo.

Copyright © 2012. Asociación Colombiana de Psiquiatría

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