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

• Published in: Scientific reports Vol. 14; no. 1; pp. 15058 - 6
• Main Authors: Yaghmouri, Mohammad, Safdari Lord, Javad, Amini, Masoumeh, Yekaninejad, Mir Saeed, Izadi, Pantea
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.07.2024; Nature Publishing Group; Nature Portfolio
• Subjects: 631/181; 631/208; 631/326; 631/337; 692/308; 692/4017; 692/420; 692/499; 692/699; Adult; Aged; Alleles; Animals; Chromosome 3; Chromosomes, Human, Pair 3 - genetics; Comorbidity; COVID-19; COVID-19 - epidemiology; COVID-19 - genetics; COVID-19 - virology; Female; Genetic diversity; Genetic Predisposition to Disease; Genome-wide association studies; Genome-Wide Association Study; Genotype; Genotypes; Haplotypes; Humanities and Social Sciences; Humans; Iran - epidemiology; Male; Middle Aged; multidisciplinary; Neanderthals - genetics; Pandemics; Polymorphism, Single Nucleotide; Population genetics; Population studies; Precision medicine; Risk assessment; SARS-CoV-2 - genetics; SARS-CoV-2 - isolation & purification; Science; Science (multidisciplinary); Severity of Illness Index; Iran
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-024-65732-8

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.