Distribución por procedencia y altitud del polimorfismo RS5522 del gen NR3C2 receptor de mineralocorticoide en poblaciones peruanas

Pool Marcos-Carbajal; Christian Allca-Muñoz; Eduardo Barbosa-Coelho; José Sandoval-Sandoval; Alberto Salazar-Granara

doi:10.35434/rcmhnaaa.2024.172.2198

Authors

Pool Marcos-Carbajal Universidad San Martin de Porres, Facultad de Medicina Humana, Centro de Investigación de Medicina Tradicional y Farmacología (CIMTFAR), La Molina, Lima, Perú; Universidad San Martin de Porres, Facultad de Medicina Humana, Centro de Investigación de Medicina de Altura (CIMA), La Molina, Lima, Perú; Universidad Peruana Unión, EP Medicina Humana, Laboratorio de Investigación en Biología Molecular (LIBM), Ñaña, Lima, Perú.
Christian Allca-Muñoz Universidad San Martin de Porres, Facultad de Medicina Humana, Centro de Investigación de Medicina Tradicional y Farmacología (CIMTFAR), La Molina, Lima, Perú; Sociedad Científica de Estudiantes de Medicina de la Universidad de San Martin de Porres (SOCIEM-USMP), La Molina, Lima, Perú.
Eduardo Barbosa-Coelho Universida de Sao Paulo, Faculda de de Medicina, Laboratorio de Hipertensao experimental e Farmacogenetica, Ribeirão Preto, Sao Paulo, Brazil.
José Sandoval-Sandoval Universida de Sao Paulo, Faculda de de Medicina, Laboratorio de Hipertensao experimental e Farmacogenetica, Ribeirão Preto, Sao Paulo, Brazil
Alberto Salazar-Granara Universidad San Martin de Porres, Facultad de Medicina Humana, Centro de Investigación de Medicina Tradicional y Farmacología (CIMTFAR), La Molina, Lima, Perú; Universidad San Martin de Porres, Facultad de Medicina Humana, Centro de Investigación de Medicina de Altura (CIMA), La Molina, Lima, Perú; Sociedad Peruana de Farmacología y Terapéutica Experimental (SOPFARTEX), San Borja, Lima, Perú.

DOI:

https://doi.org/10.35434/rcmhnaaa.2024.172.2198

Keywords:

Genetic Polymorphisms, Mineralocorticoids, Altitude, NR3C2 protein, Mineralocorticoids Receptors, Genotype

Abstract

Objective: Determine the distribution of the RS5522 polymorphism of the mineralocorticoid receptor gene NR3C2 according to its origin and altitude in Peruvian populations. Materials and methods: After signing the informed consent, adults from Lima (22), Ica-Chincha (14), Lambayeque-San José (16) participated; Puno-Uros (10), Puno-Taquile (6), Puno-Amantani (6), Arequipa-Chivay (10), Arequipa-Cabanaconde (6), Ancash-Parobamba (20), Apurímac-Andahuaylas (10), Apurímac-Abancay (10), Cajamarca-Puentecillos (13), Cajamarca-Ichocan (7), Loreto-Andoas (16), and San Martín-Lamas (22). Epidemiological and geographical data, biological blood sample and/or oral swab were collected. DNA extraction was performed using a standard technique. The determination of the RS5522 polymorphism was by real-time PCR. Variables were categorized by origin, geographic region (coast, mountains or jungle), and altitude (<2500 meters above sea level or ≥2500 meters above sea level). The Hardy Weimberg statistical test and Pearson's X2 test were applied, with a p value <0.05 being significant for a 95% CI. Results: A high frequency of the RS5522 variant of the NR3C2 gene was present in Peruvian populations. The distribution ranges in the Coast, Sierra and Jungle, respectively, were 78.57-87.50%, 50.00-93.75%, and 75.00-93.18%. According to the altitude, the distribution range at <2500 masl was 75.00-93.18%, and ≥2500 masl was 50.00-93.75%.

Conclusions: A heterogeneous distribution of the genetic variant was observed among the Peruvian subpopulations studied, apparently being greater for those located in the mountain region and at ≥2500 meters above sea level. It should be noted that the genetic variant studied encodes a protein with an important physiological role. and also as a target for drugs.

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Author Biographies

Pool Marcos-Carbajal, Universidad San Martin de Porres, Facultad de Medicina Humana, Centro de Investigación de Medicina Tradicional y Farmacología (CIMTFAR), La Molina, Lima, Perú; Universidad San Martin de Porres, Facultad de Medicina Humana, Centro de Investigación de Medicina de Altura (CIMA), La Molina, Lima, Perú; Universidad Peruana Unión, EP Medicina Humana, Laboratorio de Investigación en Biología Molecular (LIBM), Ñaña, Lima, Perú.

1. Magister en biología molecular

Christian Allca-Muñoz, Universidad San Martin de Porres, Facultad de Medicina Humana, Centro de Investigación de Medicina Tradicional y Farmacología (CIMTFAR), La Molina, Lima, Perú; Sociedad Científica de Estudiantes de Medicina de la Universidad de San Martin de Porres (SOCIEM-USMP), La Molina, Lima, Perú.

1. Médico cirujano

Eduardo Barbosa-Coelho, Universida de Sao Paulo, Faculda de de Medicina, Laboratorio de Hipertensao experimental e Farmacogenetica, Ribeirão Preto, Sao Paulo, Brazil.

1. Geólogo

José Sandoval-Sandoval, Universida de Sao Paulo, Faculda de de Medicina, Laboratorio de Hipertensao experimental e Farmacogenetica, Ribeirão Preto, Sao Paulo, Brazil

1.Biólogo, Doctorado en genética

Alberto Salazar-Granara, Universidad San Martin de Porres, Facultad de Medicina Humana, Centro de Investigación de Medicina Tradicional y Farmacología (CIMTFAR), La Molina, Lima, Perú; Universidad San Martin de Porres, Facultad de Medicina Humana, Centro de Investigación de Medicina de Altura (CIMA), La Molina, Lima, Perú; Sociedad Peruana de Farmacología y Terapéutica Experimental (SOPFARTEX), San Borja, Lima, Perú.

1. Médico cirujano

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