A novel intergenic variant linked to IFIH1 rs1990760 polymorphism,
rs2111485, shows an association with susceptibility to coronavirus
disease 2019 and influences IFIH1 protein levels.
Abstract
Interferon-induced helicase C domain-containing protein 1 (IFIH1) is one
of the main pattern recognition receptors that sense viral RNA and
activate host cells to mount an effective antiviral immunity. Therefore,
a case-control study (90 patients with mild/moderate COVID-19 and 90
matched controls) was performed to explore the association of two
variants of the IFIH1 gene with COVID-19 risk using the
tetra-primer amplification refractory mutation
system-polymerase-chain-reaction method. The first is a missense
variant, rs1990760 C/T, and the second is an intergenic variant,
rs2111485 A/G. In addition, serum IFIH1 levels were assessed using an
ELISA kit. Results revealed that mutant alleles ( T and G,
respectively) and corresponding homozygous genotypes (TT and GG,
respectively) of both variants were significantly associated with
increased risk of COVID-19. IFIH1 levels were significantly higher in
patients compared to controls and were favorably affected by the
rs1990760 and rs2111485 mutant-type genotypes. In conclusion, IFIH1
protein showed up-regulated levels in the serum of patients with
mild/moderate COVID-19. In addition, the IFIH1 gene variants
rs1990760 C/T and rs2111485 A/G were associated with susceptibility to
COVID-19, and the study suggests that their mutant-type genotypes are
not only associated with increased risk of COVID-19 but also contributed
to higher serum IFIH1 levels.