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Updated: Jul 25, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Association between angiotensin-converting enzyme-2 gene polymorphism (rs2106809) with severity and outcome of
Hamideh Mohammadi-Berenjestanaki1, Elaheh Mohammadali1, Mina Khasayesi1
1Diabetes Research Center, Mazandaran University of Medical Sciences, Sari, Iran.
Purpose:
Genetic factors play important role in the severity of the COVID-19 infection since SARS-CoV-2 binds to the ACE2 receptor on the surface of host cells. ACE2 polymorphisms that may influence the expression of ACE2 can alter patients' susceptibility to COVID-19 infection or increase the severity of the disease. This study aimed to investigate the association between ACE2 rs2106809 polymorphism and the severity of the COVID-19 infection.
Methods:
In this cross-sectional study, ACE2 rs2106809 polymorphism was assessed in 142 COVID-19 patients. The disease was confirmed according to clinical symptoms, imaging, and laboratory findings. The severity of the disease was graded as severe versus non-severe based on the CDC. Genomic DNA was extracted from the whole blood and PCR- RFLP was performed to genotype the ACE2-rs2106809 with specific primers and Taq1 restriction enzyme.
Results:
G/G genotype was significantly associated with COVID-19 severity (44.4% in severe vs. 17.5% in non-severe, OR: 4.1; 95%CI: 1.8-9.5, p = 0.0007). Patients with the G/G genotype need more mechanical ventilation (p = 0.021). ACE2 expression in patients carrying the A/G genotype was higher in the severe compared to the non-severe form of the disease (2.99 ± 0.99 vs. 2.21 ± 1.1), but it was not statistically significant (p = 0.9).
Conclusion:
The G allele and G/G genotype of ACE2 rs2106809 is associated with more severe COVID-19 and adverse disease outcomes.
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