GWAS involve testing genetic variants across the genomes of many individuals to identify genotype-phenotype associations. GWAS have enabled the identification of numerous genomic biomarkers in various complex human diseases, including infectious ones. However, few of these studies are relevant for clinical practice or at the bedside. In this issue of the JCI, Nakanishi et al. characterized the clinical implications of a major genetic risk factor for COVID-19 severity and its age-dependent effect, using individual-level data in a large international multicenter consortium. This study indicates that a common COVID-19 genetic risk factor (rs10490770) associates with increased risks of morbidity and mortality, suggesting potential implications for future clinical risk management. How can the genomic biomarkers identified by GWAS be associated with the clinical outcomes of an infectious disease? In this Commentary, we evaluate the advantages and limitations of this approach.
Vito Luigi Colona, Michela Biancolella, Antonio Novelli, Giuseppe Novelli
Title and authors | Publication | Year |
---|---|---|
MHC Class II Presentation in Autoimmunity
Ishina IA, Zakharova MY, Kurbatskaia IN, Mamedov AE, Belogurov AA Jr, Gabibov AG |
Cells | 2023 |
Human genetic and immunological determinants of critical COVID-19 pneumonia
Q Zhang, P Bastard, A Karbuz, A Gervais, A Tayoun, A Aiuti, A Belot, A Bolze, A Gaudet, A Bondarenko, Z Liu, A Spaan, A Guennoun, A Arias, A Planas, A Sediva, A Shcherbina, A Neehus, A Puel, A Froidure, A Novelli, A Parlakay, A Pujol, A Yahşi, B Gülhan, B Bigio, B Boisson, B Drolet, C Franco, C Flores, C Rodríguez-Gallego, C Prando, C Biggs, C Luyt, C Dalgard, C OFarrelly, D Matuozzo, D Dalmau, D Perlin, D Mansouri, D van de Beek, D Vinh, E Dominguez-Garrido, E Hsieh, E Erdeniz, E Jouanguy, E Şevketoglu, E Talouarn, E Quiros-Roldan, E Andreakos, E Husebye, F Alsohime, F Haerynck, G Casari, G Novelli, G Aytekin, G Morelle, G Alkan, G Bayhan, H Feldman, H Su, H von Bernuth, I Resnick, I Bustos, I Meyts, I Migeotte, I Tancevski, J Bustamante, J Fellay, J Baghdadi, J Martinez-Picado, J Casanova, J Rosain, J Manry, J Chen, J Christodoulou, J Bohlen, J Franco, J Li, J Anaya, J Rojas, J Ye, K Uddin, K Yasar, K Kisand, K Okamoto, K Chaïbi, K Mironska, L Maródi, L Abel, L Renia, L Lorenzo, L Hammarström, L Ng, L Quintana-Murci, L Erazo, L Notarangelo, L Reyes, L Allende, L Imberti, M Renkilaraj, M Moncada-Velez, M Materna, M Anderson, M Gut, M Chbihi, M Ogishi, M Emiroglu, M Seppänen, M Uddin, M Shahrooei, N Alexander, N Hatipoglu, N Marr, N Akçay, O Boyarchuk, O Slaby, O Akcan, P Zhang, P Soler-Palacín, P Gregersen, P Brodin, P Garçon, P Morange, Q Pan-Hammarström, Q Zhou, Q Philippot, R Halwani, R de Diego, R Levy, R Yang, Ş Öz, S Muhsen, S Kanık-Yüksek, S Espinosa-Padilla, S Ramaswamy, S Okada, S Bozdemir, S Aytekin, Ş Karabela, S Keles, S Senoglu, S Zhang, S Duvlis, S Constantinescu, S Boisson-Dupuis, S Turvey, S Tangye, T Asano, T Ozcelik, T Voyer, T Maniatis, T Morio, T Mogensen, V Sancho-Shimizu, V Beziat, X Solanich, Y Bryceson, Y Lau, Y Itan, A Cobat, J Casanova |
Nature | 2022 |
COVID-19: impact on Public Health and hypothesis-driven investigations on genetic susceptibility and severity
S David, G Dorado, E Duarte, S David-Bosne, J Trigueiro-Louro, H Rebelo-de-Andrade |
Immunogenetics | 2022 |
CRISPRi links COVID-19 GWAS loci to LZTFL1 and RAVER1
I Fink-Baldauf, W Stuart, J Brewington, M Guo, Y Maeda |
EBioMedicine | 2022 |
COVID-19 2022 update: transition of the pandemic to the endemic phase.
Biancolella M, Colona VL, Mehrian-Shai R, Watt JL, Luzzatto L, Novelli G, Reichardt JKV |
Human genomics | 2022 |
HLA-A∗03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination.
Bolze A, Neveux I, Schiabor Barrett KM, White S, Isaksson M, Dabe S, Lee W, Grzymski JJ, Washington NL, Cirulli ET |
2022 | |
ACE2 and TMPRSS2 SARS-CoV-2 infectivity genes: deep mutational scanning and characterization of missense variants
Zhang L, Sarangi V, Liu D, Ho MF, Grassi AR, Wei L, Moon I, Vierkant RA, Larson NB, Lazaridis KN, Athreya AP, Wang L, Weinshilboum R |
Human Molecular Genetics | 2022 |