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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Guardado en:
Detalles Bibliográficos
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
Descripción
Sumario: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.

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