Frequency of CYP1A1*2A polymorphisms and deletion of the GSMT1 gene in a Peruvian mestizo population

Abstract

The polymorphic variants of CYP1A1 and the deletion of GSTM1 are present in the Peruvian mestizo population. Wild type and mutated genotypes (WT/*2A and *2A/ *2A) were identified, whose allele frequencies are 0.31 (T allele) and 0.69 (C allele), respectively; 53% with wild type GSTM1 (+) and 47% with null GSTM1. The frequency in Iquiteño emigrants was 0.72 CYP1A1*2A and 25% GSTM1 (-); from Lima 0.67 CYP1A1*2A and 33% of GSTM1 (-). The Hardy-Weinberg equilibrium test for the studied population showed that both frequencies are out of balance, p > .05. The presence of the risk allele of the CYP1A1*2A polymorphism and the deletion in the GSTM1 gene are high, which could be indicative of a phase I and II metabolic imbalance in this group of Peruvian populations, with potential risks of activating agents procarcinogens thus affecting the incidence of tumor pathologies with an environmental component.

Frequency of CYP2D6*3 and *4 and metabolizer phenotypes in three mestizo Peruvian populations

“…To determine if the distribution of the studied genotypes was in Hardy-Weinberg equilibrium (HWE), the Chisquare (X 2 ) goodness-of-fit test was performed, considering a degree of freedom and a p-value <.05. X 2 values less than 3.88 in the comparison indicated acceptance of the null hypothesis, therefore, the observed frequencies did not differ significantly from those expected (Alvarado et al 2019;Alvarado et al 2021). CYP2D6 allele frequencies predicted metabolic phenotypes (Zanger et al 2004).…”

“…Observational, descriptive, cross-sectional study, non-probabilistic convenience sampling and prospective recruitment between January 2017 and December 2020. The Peruvian inhabitants were summoned and informed about the objectives and importance of the study, after that, only those who signed the informed consent freely and voluntarily, were enrolled in the present investigation (Alvarado et al 2019;Alvarado et al 2021). A total of 234 Peruvian mestizo subjects (174, 74.36% men; 60 women, 25.64%) were recruited for this study; 184 were from the coastal zone of the Pacific Lima (n = 134; 57.26%) and Tacna (n = 50; 21.37%), and 50 subjects from the Andean zone of Junín (21.37%); and with an age of 19 to 53 years (mean of 24.68 years); both sexes [Lima: female 35 (26.12%); male 99 (73.88%).…”

“…To include mestizo Peruvians in the present study, reports of the migratory pattern, native genes, and non-molecular markers of miscegenation (linguistic tree and surnames) were considered (Alvarado et al 2021). Regarding the migratory pattern of Peruvians, this is a complex phenomenon, generated by the economic crisis, by the displacement of rural areas and the countryside towards the city, by natural disasters (Yamada 2010;Carrillo-Larco et al 2017), and in the case of young people, it is due to the aspiration to pursue university studies, improve their social and economic level and living conditions, which contributes to the internal miscegenation of Peruvians (Carrillo-Larco et al 2017), at the same time, said miscegenation, is due to migration of Latin Americans, Europeans, Africans (Hunley and Healy 2011), and Asians to Peru (Vilchez 2016); considering the linguistic tree and the ancestry surnames, which indicate the migratory pat-terns, population structure and historical phylogenetic relationships between populations (Herrera-Paz 2013).…”

“…All of this allowed us to select mestizo Peruvians over 18 years of age and of coastal and Andean origin; at the medical examination, be in good health (systolic blood pressure of 110-139 mm Hg and diastolic of 60-89 mm Hg, abdominal circumference less than 95 cm in men and 82 cm in women and not having a diagnosis of diabetes); and by an explicit declaration of each volunteer not to consume alcoholic beverages or drugs of abuse, not to have a difficulty that prevents the taking of the biological sample and to give their consent in writing. All subjects, who belonged to an ethnic group, were not in a position to give their consent, and those who did not meet the inclusion criteria were excluded from the study (Alvarado et al 2019;Alvarado et al 2021).…”

“…The study was carried out in strict compliance with good clinical practices (BCP), Code of Ethics of the World Medical Association (Declaration of Helsinki), the research protocol, and informed consent being approved by the Ethics Committee of Hospital Santa Rosa, by certificate No 16-19-CMI-HSR. Each volunteer was assigned a code number to guarantee their anonymity and confidentiality (Alvarado et al 2019;Alvarado et al 2021).…”