Abstract

PEREZ MATURO, J; VIDELA, Y; DI GERONIMO, V  and  QUINTANA, S. Serotonergic polymorphisms: allelic and genotypic frequency distribution in the Mar del plata, Srgentina, population and comparison of genotyping methods. BAG, J. basic appl. genet. [online]. 2017, vol.28, n.1, pp.41-49. ISSN 1852-6233.

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.

Keywords : Serotonergic polymorphisms; Population frequencies for depression; Pharmacogenetics.

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