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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
Manuel Bicho


Background: Since the emergence of the genus Homo, hominids have occupied a wide variety of environments, facing different selective pressures.

Objectives: The aim this study is to compare genotype frequencies between South-West Europe and Peri-equatorial Africa in genes potentially modulators of blood pressure.

Methods: The 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.

Results: Frequencies 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.

Conclusion: Results 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.

Keywords: Blood pressure; genetics; Africa.

Journal Identifiers

eISSN: 1729-0503
print ISSN: 1680-6905