Polymorphisms in the human angiotensin converting enzyme gene (ACE) linked to susceptibility of COVID-19 and malaria infections in the Ghanaian population.

Publication date: Feb 15, 2024

Genetic variations in the human angiotensin converting enzyme gene (ACE) influence ACE enzyme expression levels in humans and subsequently influence both communicable and non-communicable disease outcomes. More recently, polymorphisms in this gene have been linked to susceptibility and outcomes of infectious diseases such as the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and malaria infections. This study is the first to investigate the genetic diversity of ACE and ACE2 polymorphisms in the Ghanaian population. Archived filter blood blot samples from malaria patients aged ≤9 years were used. Molecular analysis for the detection of ACE rs4646994 (I/D), ACE2 rs2106809 (C/T) and rs2285666 (G/A) alleles as well as ACE2 exons 1-4 polymorphisms was conducted on 300 samples. The D allele (54%,162/300) was the most dominant polymorphism observed in the ACE rs4646994 gene whilst the G (68%, 204/300) and T alleles (59. 3%,178/300) were the most frequent ACE2 rs2285666 and rs2106809 polymorphisms observed. For the 300 samples sequenced for ACE2 exons 1-4, analyses were done on 268, 282 and 137 quality sequences for exons 1, 2 and 3-4 respectively. For exon 1, the mutation D38N (2. 2%; 6/268) was the most prevalent. The S19P and E37K mutations previously reported to influence COVID-19 infections were observed at low frequencies (0. 4%, 1/268 each). No mutations were observed in exon 2. The N121K/T variants were the most seen in exons 3-4 at frequencies of 5. 1% (K121, 7/137) and 2. 9% (T121, 4/137) resectively. Most of the variants observed in the exons were novel compared to those reported in other populations in the world. This is the first study to investigate the genetic diversity of ACE and ACE2 genes in Ghanaians. The observation of novel mutations in the ACE2 gene is suggesting selection pressure. The importance of the mutations for communicable and non-communicable diseases (malaria and COVID-19) are further discussed.

Concepts Keywords
Coronavirus ACE
Genetic ACE2
K121 Angiotensin converting enzyme
Rs2285666 Genetic polymorphisms
Severe Ghana


Type Source Name
drug DRUGBANK Angiotensin II
disease VO gene
disease IDO susceptibility
disease MESH COVID-19
disease MESH malaria
pathway KEGG Malaria
disease MESH infections
disease VO population
disease MESH non-communicable disease
disease MESH infectious diseases
disease VO Severe acute respiratory syndrome coronavirus 2
disease IDO blood
disease IDO quality

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