Steffany Larissa Galdino Galisa, Marcus Villander Barros de Oliveira Sá, Natália Machado Tavares, Viviane Sampaio Boaventura, Juliana Ribeiro Caldas, Raquel Bispo de São Pedro, Carlos Dornels Freire de Souza, Anderson da Costa Armstrong, Pablo Rafael Silveira Oliveira, Rodrigo Feliciano do Carmo, Luydson Richardson Silva Vasconcelos
{"title":"cle4m基因单核苷酸多态性rs868875与巴西人群COVID-19临床严重程度的关系","authors":"Steffany Larissa Galdino Galisa, Marcus Villander Barros de Oliveira Sá, Natália Machado Tavares, Viviane Sampaio Boaventura, Juliana Ribeiro Caldas, Raquel Bispo de São Pedro, Carlos Dornels Freire de Souza, Anderson da Costa Armstrong, Pablo Rafael Silveira Oliveira, Rodrigo Feliciano do Carmo, Luydson Richardson Silva Vasconcelos","doi":"10.1007/s00251-025-01386-8","DOIUrl":null,"url":null,"abstract":"<p><p>COVID-19, caused by the SARS-CoV-2 virus, has had a global impact, leading to high incidence and mortality rates worldwide. Host genetics significantly influence individual susceptibility to severe COVID-19. The C-type lectin domain family 4 member M (CLEC4M) gene plays an important role in SARS-CoV-2 infection and coagulation pathways. In this study, we genotyped and investigated the functional variant rs868875 of the CLEC4M gene in COVID-19 patients receiving anticoagulant therapy. This cross-sectional study included 485 patients, divided into moderate (n = 139) and critical/severe (n = 346) groups. Significant disparities in D-dimer levels were observed between patient groups (p < 0.0001), thus serving as a critical marker for stratification. Genetic analysis revealed significant associations between allele (p = 0.0170) and genotype (p = 0.0096) frequencies across the groups. Regarding genotypic models, an association was found in dominant (p = 0.0035) and overdominant (p = 0.004) models. Logistic regression confirmed that the presence of G allele (AG/GG) significantly impacts COVID-19 severity, independent of confounding variables (p = 0.017). Moreover, expression quantitative trait loci (eQTLs) analysis indicated that the GG genotype of rs868875 is associated with lower CLEC4M gene expression in lung and liver tissue, and STRING analysis revealed relevant biological interactions between CLEC4M and other genes in the inflammatory process, innate immunity, and vascular response. Overall, our findings suggest an association between the rs868875 polymorphism and severe clinical outcomes of COVID-19 in patients receiving anticoagulants. However, further validation studies are essential to corroborate these findings and elucidate the functional implications of this polymorphism. These efforts will contribute to a comprehensive understanding of the pathogenesis of COVID-19.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"77 1","pages":"29"},"PeriodicalIF":2.9000,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Association between single-nucleotide polymorphism rs868875 of CLEC4M gene and clinical severity of COVID-19 in a Brazilian population.\",\"authors\":\"Steffany Larissa Galdino Galisa, Marcus Villander Barros de Oliveira Sá, Natália Machado Tavares, Viviane Sampaio Boaventura, Juliana Ribeiro Caldas, Raquel Bispo de São Pedro, Carlos Dornels Freire de Souza, Anderson da Costa Armstrong, Pablo Rafael Silveira Oliveira, Rodrigo Feliciano do Carmo, Luydson Richardson Silva Vasconcelos\",\"doi\":\"10.1007/s00251-025-01386-8\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>COVID-19, caused by the SARS-CoV-2 virus, has had a global impact, leading to high incidence and mortality rates worldwide. Host genetics significantly influence individual susceptibility to severe COVID-19. The C-type lectin domain family 4 member M (CLEC4M) gene plays an important role in SARS-CoV-2 infection and coagulation pathways. In this study, we genotyped and investigated the functional variant rs868875 of the CLEC4M gene in COVID-19 patients receiving anticoagulant therapy. This cross-sectional study included 485 patients, divided into moderate (n = 139) and critical/severe (n = 346) groups. Significant disparities in D-dimer levels were observed between patient groups (p < 0.0001), thus serving as a critical marker for stratification. Genetic analysis revealed significant associations between allele (p = 0.0170) and genotype (p = 0.0096) frequencies across the groups. Regarding genotypic models, an association was found in dominant (p = 0.0035) and overdominant (p = 0.004) models. Logistic regression confirmed that the presence of G allele (AG/GG) significantly impacts COVID-19 severity, independent of confounding variables (p = 0.017). Moreover, expression quantitative trait loci (eQTLs) analysis indicated that the GG genotype of rs868875 is associated with lower CLEC4M gene expression in lung and liver tissue, and STRING analysis revealed relevant biological interactions between CLEC4M and other genes in the inflammatory process, innate immunity, and vascular response. Overall, our findings suggest an association between the rs868875 polymorphism and severe clinical outcomes of COVID-19 in patients receiving anticoagulants. However, further validation studies are essential to corroborate these findings and elucidate the functional implications of this polymorphism. 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Association between single-nucleotide polymorphism rs868875 of CLEC4M gene and clinical severity of COVID-19 in a Brazilian population.
COVID-19, caused by the SARS-CoV-2 virus, has had a global impact, leading to high incidence and mortality rates worldwide. Host genetics significantly influence individual susceptibility to severe COVID-19. The C-type lectin domain family 4 member M (CLEC4M) gene plays an important role in SARS-CoV-2 infection and coagulation pathways. In this study, we genotyped and investigated the functional variant rs868875 of the CLEC4M gene in COVID-19 patients receiving anticoagulant therapy. This cross-sectional study included 485 patients, divided into moderate (n = 139) and critical/severe (n = 346) groups. Significant disparities in D-dimer levels were observed between patient groups (p < 0.0001), thus serving as a critical marker for stratification. Genetic analysis revealed significant associations between allele (p = 0.0170) and genotype (p = 0.0096) frequencies across the groups. Regarding genotypic models, an association was found in dominant (p = 0.0035) and overdominant (p = 0.004) models. Logistic regression confirmed that the presence of G allele (AG/GG) significantly impacts COVID-19 severity, independent of confounding variables (p = 0.017). Moreover, expression quantitative trait loci (eQTLs) analysis indicated that the GG genotype of rs868875 is associated with lower CLEC4M gene expression in lung and liver tissue, and STRING analysis revealed relevant biological interactions between CLEC4M and other genes in the inflammatory process, innate immunity, and vascular response. Overall, our findings suggest an association between the rs868875 polymorphism and severe clinical outcomes of COVID-19 in patients receiving anticoagulants. However, further validation studies are essential to corroborate these findings and elucidate the functional implications of this polymorphism. These efforts will contribute to a comprehensive understanding of the pathogenesis of COVID-19.
期刊介绍:
Immunogenetics publishes original papers, brief communications, and reviews on research in the following areas: genetics and evolution of the immune system; genetic control of immune response and disease susceptibility; bioinformatics of the immune system; structure of immunologically important molecules; and immunogenetics of reproductive biology, tissue differentiation, and development.