# The association of rs17713054 with Neanderthal origin at 3p21.31 locus with the severity of COVID-19 in Iranian patients

**Authors:** Mohammad Yaghmouri, Javad Safdari Lord, Masoumeh Amini, Mir Saeed Yekaninejad, Pantea Izadi

PMC · DOI: 10.1038/s41598-024-65732-8 · Scientific Reports · 2024-07-01

## TL;DR

This study finds that a genetic variant inherited from Neanderthals increases the risk of severe COVID-19 in Iranian patients.

## Contribution

The study identifies rs17713054 as a novel genetic risk factor for severe COVID-19 in the Iranian population.

## Key findings

- The A allele at rs17713054 increases the risk of severe COVID-19 by nearly twofold.
- The AA genotype raises the risk by over 11 times under a recessive model.
- The variant is independently associated with disease severity in Iranian patients.

## Abstract

Since the COVID-19 pandemic, the diversity of clinical manifestations in patients has been a tremendous challenge. It seems that genetic variations, as one of the players, contribute to the variety of symptoms. Genome-wide association studies have demonstrated the influence of certain genomic regions on the disease prognosis. Particularly, a haplotype at 3p21.31 locus, inherited from Neanderthals, showed an association with COVID-19 severity. Despite several studies regarding this haplotype, some key variants are not sufficiently addressed. In the present study, we investigated the association of rs17713054 at 3p21.31 with COVID-19 severity. We analyzed the genotype of 251 Iranian COVID-19 patients (151 patients with asymptomatic to mild form as control and 100 patients with severe to critical symptoms without any comorbidities as case group) using the ARMS-PCR method. Results demonstrated that the A allele confers an almost twofold increased risk for COVID-19 severity (P
value = 0.008). The AA genotype also raises the risk by more than 11 times following the recessive model (P
value = 0.013). In conclusion, the A allele in rs17713054 was a risk allele in Iranian patients and was independently associated with COVID-19 severity. More studies are beneficial to confirm these findings in other populations and to develop strategies for risk assessment, prevention, and personalized medicine.

## Linked entities

- **Diseases:** COVID-19 (MONDO:0100096)

## Full-text entities

- **Diseases:** COVID-19 (MESH:D000086382)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs17713054

## Full text

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## Figures

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## References

29 references — full list in the complete paper: https://tomesphere.com/paper/PMC11219939/full.md

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Source: https://tomesphere.com/paper/PMC11219939