• African health sciences · Dec 2021

    Differences in the genotype frequencies of genes related to blood pressure regulation - a comparative study between South-West Europe and Peri-equatorial Africa.

    • Laura Aguiar, Ildegário Semente, Joana Ferreira, Andreia Carvalho, Alda P Silva, Cristina Caroça, Helena Caria, Albertino Damasceno, Maria J Laires, Luís Sardinha, Cristina Monteiro, Mário R Mascarenhas, Paula Faustino, Ângela Inácio, and Manuel Bicho.
    • Instituto de Investigação Científica Bento da Rocha Cabral, Lisboa, Portugal.
    • Afr Health Sci. 2021 Dec 1; 21 (4): 1669-1676.

    BackgroundSince the emergence of the genus Homo, hominids have occupied a wide variety of environments, facing different selective pressures.ObjectivesThe aim this study is to compare genotype frequencies between South-West Europe and Peri-equatorial Africa in genes potentially modulators of blood pressure.MethodsThe analyzed sample consisted of 325 individuals from Portugal and 226 individuals from Africa (48 from Mozambique and 178 from São Tomé and Príncipe). The following genetic variants were analyzed: intron 4 VNTR in eNOS, rs1050829 in G6PD, -3.7kb α-thalassemic deletion in HBA, rs1800457 in CYB5R3, Hp 1/2 genotype/phenotype in Hp and intron 16 I/D in ACE.ResultsFrequencies of genotypes with the 4a allele in eNOS (p<0.001), the G allele in G6PD (p<0.001), the α-3.7 kb in HBA (p <0.001), the C allele in the CYB5R3 (p<0.001) were higher in Peri-equatorial Africa. The Hp 1.1 genotype of Hp has a higher frequency in Peri-equatorial Africa (p=0.002). ACE shows no significant differences.ConclusionResults show differences in five genetic variants. Conditions of extreme heat and humidity, characteristic of Peri-equatorial Africa, have been associated with increased sodium loss. This study suggests that selected compensatory mechanisms printed in the genome, are nowadays risk factors for hypertension in Peri-equatorial Africa.© 2021 Aguiar L et al.

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