Serotonergic polymorphisms: Allelic and genotypic frequency distribution in the Mar del Plata, Argentina, population and comparison of genotyping methods

There are variable responses to Serotonin Selective Reuptake Inhibitors (SSRIs) among patients treated with this medication. Polymorphisms found in the genes coding for the serotonin transporter (5-HTT) and the serotonin 2A receptor (5-HTR2A) can be used as genetic biomarkers capable of predicting t...

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Publicado:	2017
Materias:	Pharmacogenetics Population frequencies for depression Serotonergic polymorphisms serotonin receptor Argentina Article controlled study gene frequency genotype human major clinical study polymerase chain reaction restriction fragment length polymorphism single nucleotide polymorphism
Acceso en línea:	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_16660390_v28_n1_p41_PerezMaturo http://hdl.handle.net/20.500.12110/paper_16660390_v28_n1_p41_PerezMaturo
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

id	paper:paper_16660390_v28_n1_p41_PerezMaturo
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spelling	paper:paper_16660390_v28_n1_p41_PerezMaturo2023-06-08T16:26:12Z Serotonergic polymorphisms: Allelic and genotypic frequency distribution in the Mar del Plata, Argentina, population and comparison of genotyping methods Pharmacogenetics Population frequencies for depression Serotonergic polymorphisms serotonin receptor Argentina Article controlled study gene frequency genotype human major clinical study polymerase chain reaction restriction fragment length polymorphism single nucleotide polymorphism There are variable responses to Serotonin Selective Reuptake Inhibitors (SSRIs) among patients treated with this medication. Polymorphisms found in the genes coding for the serotonin transporter (5-HTT) and the serotonin 2A receptor (5-HTR2A) can be used as genetic biomarkers capable of predicting treatment efficacy. The SLC6A4 gene has two polymorphisms: 5-HTTLPR, consisting of an insertion/deletion of 44 bp, and 5-HTTVNTR, characterized by 9, 10 or 12 copies of a region of 16-17 bp. Gene 5-HTR2A presents the 1438 G/A SNP. In order to obtain the allelic and genotypic frequencies of the listed polymorphisms in a sample of the Mar del Plata city population, Argentina; PCR and PCR-RFLP methodologies were applied to genotype the 5-HTTLPR and 5-HTTVNTR polymorphisms and the 1438 G/A SNP in 384 unrelated individuals. Different primers for genotyping were compared.The allelic and genotypic frequencies obtained for polymorphism were the following: 5-HTTLPR polymorphism L/L: 18 %; L/S: 61 %; S/S: 21 % (Freq allelic L: 49 %; S: 51 %) and the 5-HTTVNTR 12/12: 42 %, 12/10: 41 %; 10/10: 17 % (Freq Allelic 10: 37.5 %; 12: 62.5 %). For polymorphism 1438 G/A GA: 47 % GG: 36 %, AA: 17 % (Freq allelic G: 59.5 %; A: 40.5 %). This study will provide useful data for investigations that require the use of these polymorphisms as genetic markers linked to the response to psychoactive drugs in our population. © 2017, Sociedad Argentina de Genetica. All rights reserved. 2017 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_16660390_v28_n1_p41_PerezMaturo http://hdl.handle.net/20.500.12110/paper_16660390_v28_n1_p41_PerezMaturo
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-134
collection	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic	Pharmacogenetics Population frequencies for depression Serotonergic polymorphisms serotonin receptor Argentina Article controlled study gene frequency genotype human major clinical study polymerase chain reaction restriction fragment length polymorphism single nucleotide polymorphism
spellingShingle	Pharmacogenetics Population frequencies for depression Serotonergic polymorphisms serotonin receptor Argentina Article controlled study gene frequency genotype human major clinical study polymerase chain reaction restriction fragment length polymorphism single nucleotide polymorphism Serotonergic polymorphisms: Allelic and genotypic frequency distribution in the Mar del Plata, Argentina, population and comparison of genotyping methods
topic_facet	Pharmacogenetics Population frequencies for depression Serotonergic polymorphisms serotonin receptor Argentina Article controlled study gene frequency genotype human major clinical study polymerase chain reaction restriction fragment length polymorphism single nucleotide polymorphism
description	There are variable responses to Serotonin Selective Reuptake Inhibitors (SSRIs) among patients treated with this medication. Polymorphisms found in the genes coding for the serotonin transporter (5-HTT) and the serotonin 2A receptor (5-HTR2A) can be used as genetic biomarkers capable of predicting treatment efficacy. The SLC6A4 gene has two polymorphisms: 5-HTTLPR, consisting of an insertion/deletion of 44 bp, and 5-HTTVNTR, characterized by 9, 10 or 12 copies of a region of 16-17 bp. Gene 5-HTR2A presents the 1438 G/A SNP. In order to obtain the allelic and genotypic frequencies of the listed polymorphisms in a sample of the Mar del Plata city population, Argentina; PCR and PCR-RFLP methodologies were applied to genotype the 5-HTTLPR and 5-HTTVNTR polymorphisms and the 1438 G/A SNP in 384 unrelated individuals. Different primers for genotyping were compared.The allelic and genotypic frequencies obtained for polymorphism were the following: 5-HTTLPR polymorphism L/L: 18 %; L/S: 61 %; S/S: 21 % (Freq allelic L: 49 %; S: 51 %) and the 5-HTTVNTR 12/12: 42 %, 12/10: 41 %; 10/10: 17 % (Freq Allelic 10: 37.5 %; 12: 62.5 %). For polymorphism 1438 G/A GA: 47 % GG: 36 %, AA: 17 % (Freq allelic G: 59.5 %; A: 40.5 %). This study will provide useful data for investigations that require the use of these polymorphisms as genetic markers linked to the response to psychoactive drugs in our population. © 2017, Sociedad Argentina de Genetica. All rights reserved.
title	Serotonergic polymorphisms: Allelic and genotypic frequency distribution in the Mar del Plata, Argentina, population and comparison of genotyping methods
title_short	Serotonergic polymorphisms: Allelic and genotypic frequency distribution in the Mar del Plata, Argentina, population and comparison of genotyping methods
title_full	Serotonergic polymorphisms: Allelic and genotypic frequency distribution in the Mar del Plata, Argentina, population and comparison of genotyping methods
title_fullStr	Serotonergic polymorphisms: Allelic and genotypic frequency distribution in the Mar del Plata, Argentina, population and comparison of genotyping methods
title_full_unstemmed	Serotonergic polymorphisms: Allelic and genotypic frequency distribution in the Mar del Plata, Argentina, population and comparison of genotyping methods
title_sort	serotonergic polymorphisms: allelic and genotypic frequency distribution in the mar del plata, argentina, population and comparison of genotyping methods
publishDate	2017
url	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_16660390_v28_n1_p41_PerezMaturo http://hdl.handle.net/20.500.12110/paper_16660390_v28_n1_p41_PerezMaturo
_version_	1768544658100584448

Serotonergic polymorphisms: Allelic and genotypic frequency distribution in the Mar del Plata, Argentina, population and comparison of genotyping methods

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