Article
Multidisciplinary Sciences
Rephaim Mpofu, Kennedy Otwombe, Koleka Mlisana, Maphoshane Nchabeleng, Mary Allen, James Kublin, M. Juliana McElrath, Linda-Gail Bekker, Gavin Churchyard, Glenda Gray, Fatima Laher
Summary: Benign ethnic neutropenia (BEN) is more prevalent in Black South Africans compared to US Non-Hispanic Whites and does not increase the risk of HIV infection. Female gender and cannabis use are predictors of HIV infection risk. BEN was not associated with increased risk for HIV infection or adverse events in an HIV vaccine trial, highlighting the importance of prevention programs targeting these populations.
Article
Oncology
Filipa Lynce, Matthew J. Blackburn, Rebecca Zhuo, Christopher Gallagher, Olwen M. Hahn, Maysa Abu-Khalaf, Mahsa Mohebtash, Tianmin Wu, Paula R. Pohlmann, Asma Dilawari, Shruti R. Tiwari, Ami Chitalia, Robert Warren, Ming Tan, Ayesha N. Shajahan-Haq, Claudine Isaacs
Summary: Palbociclib is well tolerated in African American women with HR-positive/HER2-negative ABC. Duffy null status may affect the incidence of grade 3 neutropenia, dose intensity, and possibly clinical benefit.
Review
Cell Biology
Nikita Jinna, Padmashree Rida, Tianyi Su, Zhihong Gong, Song Yao, Mark LaBarge, Rama Natarajan, Tijana Jovanovic-Talisman, Christine Ambrosone, Victoria Seewaldt
Summary: The progression of certain pre-malignant and pre-invasive breast lesions remains a challenge for clinicians. The decline of immune defense, known as immunosenescence, and the excessive infiltration of pro-inflammatory chemokines contribute to the development and progression of these lesions. DARC, a receptor for chemokines, may play a protective role against inflamm-aging and reduce the risk of high-risk lesions progressing to malignancy.
Article
Hematology
Marianne E. Yee, Richard O. Francis, Naomi L. C. Luban, Kirk A. Easley, Christopher M. Lough, John D. Roback, Cassandra D. Josephson, Ross M. Fasano
Summary: The study found that selecting Duffy-null RBC units may result in shorter in vivo survival of transfused RBCs, as there is a higher likelihood of transfusing units from G6PD deficient donors.
Article
Multidisciplinary Sciences
Samukelisiwe Ngcobo, Refilwe P. Molatlhegi, Farzana Osman, Sinaye Ngcapu, Natasha Samsunder, Nigel J. Garrett, Salim S. Abdool Karim, Quarraisha Abdool Karim, Lyle R. McKinnon, Aida Sivro
Summary: This study examined the relationship between pre-infection plasma cytokine expression and the rate of HIV disease progression in South African women who seroconverted during the CAPRISA 004 tenofovir gel trial. The results showed that pre-infection systemic immune responses could play a role in HIV disease progression, especially in the early stages of infection.
SCIENTIFIC REPORTS
(2022)
Article
Virology
Samantha McInally, Kristin Wall, Tianwei Yu, Rabindra Tirouvanziam, William Kilembe, Jill Gilmour, Susan A. Allen, Eric Hunter
Summary: The study showed that individuals who later became HIV-1 infected had significantly higher baseline levels of multiple inflammatory cytokines/chemokines compared to individuals who remained HIV-negative. Specific levels of certain biomarkers were identified as significant predictors of later HIV acquisition, indicating a potential link between inflammation and immune activation with increased risk of HIV infection.
Article
Immunology
Christina Ekenberg, Joanne Reekie, Adrian G. Zucco, Daniel D. Murray, Shweta Sharma, Cameron R. Macpherson, Abdel Babiker, Virginia Kan, H. Clifford Lane, James D. Neaton, Jens D. Lundgren
Summary: The study revealed that certain HLA alleles may influence the risk of clinical events in HIV-positive individuals, irrespective of viral load and CD4(+) T-cell count.
Article
Nutrition & Dietetics
Alfa Muhihi, Wafaie W. Fawzi, Said Aboud, Tumaini J. Nagu, Nzovu Ulenga, Molin Wang, Ferdinand Mugusi, Christopher R. Sudfeld
Summary: A study conducted on adults initiating ART in Tanzania showed that vitamin D supplementation did not have an effect on HIV progression, viral suppression, comorbidities, weight-related indicators, or depression.
JOURNAL OF NUTRITION
(2022)
Article
Immunology
Huyen Nguyen, Benjamin Hampel, David Garcia Nunez, Manuel Battegay, Anna Hachfeld, Enos Bernasconi, Alexandra Calmy, Matthias Cavassini, Pietro Vernazza, Jacques Fellay, Hannes Rudolph, Michael Huber, Karoline Leuzinger, Matthieu Perreau, Alexandra Scherrer, Alban Nicolas Ramette, Sabine Yerly, Huldrych F. Guenthard, Roger D. Kouyos, Katharina Kusejko
Summary: Through the Swiss HIV Cohort Study, we identified and characterized 89 trans women, finding them to be epidemiologically distinct from cis heterosexual women and men who have sex with men in terms of sociological and clinical data, as well as high-risk behaviors, and found in various transmission contexts.
CLINICAL INFECTIOUS DISEASES
(2022)
Article
Immunology
Isabella C. Schoepf, Christian W. Thorball, Bruno Ledergerber, Neeltje A. Kootstra, Peter Reiss, Marieke Raffenberg, Tanja Engel, Dominique L. Braun, Barbara Hasse, Christine Thurnheer, Catia Marzolini, Marco Seneghini, Enos Bernasconi, Matthias Cavassini, Helene Buvelot, Jose R. Arribas, Roger D. Kouyos, Jacques Fellay, Huldrych F. Gunthard, Philip E. Tarr
Summary: The study found that there was a significant decline in telomere length during untreated chronic HIV infection, but no significant change during suppressive antiretroviral therapy.
JOURNAL OF INFECTIOUS DISEASES
(2022)
Article
Immunology
Evangelos Andreakos, Laurent Abel, Donald C. Vinh, Elzbieta Kaja, Beth A. Drolet, Qian Zhang, Cliona O'Farrelly, Giuseppe Novelli, Carlos Rodriguez-Gallego, Filomeen Haerynck, Carolina Prando, Aurora Pujol, Helen C. Su, Jean-Laurent Casanova, Andras N. Spaan, Paul Bastard, Catherine M. Biggs, Benedetta Bigio, Bertrand Boisson, Alexandre Bolze, Anastasiia Bondarenko, Petter Brodin, Samya Chakravorty, John Christodoulou, Aurelie Cobat, Antonio Condino-Neto, Stefan N. Constantinescu, Hagit Baris Feldman, Jacques Fellay, Rabih Halwani, Emmanuelle Jouanguy, Yu-Lung Lau, Isabelle Meyts, Trine H. Mogensen, Satoshi Okada, Keisuke Okamoto, Tayfun Ozcelik, Qiang Pan-Hammarstrom, Anna M. Planas, Anne Puel, Lluis Quintana-Murci, Laurent Renia, Igor Resnick, Anna Sediva, Anna Shcherbina, Ondrej Slaby, Ivan Tancevski, Stuart E. Turvey, K. M. Furkan Uddin, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Shen-Ying Zhang
Summary: SARS-CoV-2 infections can vary greatly between individuals, with some being asymptomatic while others experience life-threatening disease. While 20% of critical COVID-19 cases are due to inborn errors or autoantibodies, the genetic and immunological factors for resistance to infection itself remain unknown. Studies have shown that autosomal recessive deficiencies in certain genes or enzymes can confer resistance to diseases, suggesting a potential strategy for identifying individuals naturally resistant to SARS-CoV-2 infection.
Article
Multidisciplinary Sciences
Chris Wymant, Daniela Bezemer, Francois Blanquart, Luca Ferretti, Astrid Gall, Matthew Hall, Tanya Golubchik, Margreet Bakker, Swee Hoe Ong, Lele Zhao, David Bonsall, Mariateresa de Cesare, George MacIntyre-Cockett, Lucie Abeler-Doerner, Jan Albert, Norbert Bannert, Jacques Fellay, M. Kate Grabowski, Barbara Gunsenheimer-Bartmeyer, Huldrych F. Gunthard, Pia Kivela, Roger D. Kouyos, Oliver Laeyendecker, Laurence Meyer, Kholoud Porter, Matti Ristola, Ard van Sighem, Ben Berkhout, Paul Kellam, Marion Cornelissen, Peter Reiss, Christophe Fraser
Summary: A highly virulent variant of subtype-B HIV-1 was discovered in the Netherlands. Infected individuals with this variant had significantly higher viral loads and faster decline in CD4 cells compared to other subtype-B strains. The increased virulence is attributed to the viral strain, and the variant emerged in the 1990s with increased transmissibility and an unfamiliar molecular mechanism of virulence.
Article
Multidisciplinary Sciences
Alexander G. Bick, Konstantin Popadin, Christian W. Thorball, Md Mesbah Uddin, Markella Zanni, Bing Yu, Matthias Cavassini, Andri Rauch, Philip Tarr, Patrick Schmid, Enos Bernasconi, Huldrych F. Gunthard, Peter Libby, Eric Boerwinkle, Paul J. McLaren, Christie M. Ballantyne, Steven Grinspoon, Pradeep Natarajan, Jacques Fellay
Summary: People living with human immunodeficiency virus (PLWH) have a higher prevalence of clonal hematopoiesis of indeterminate potential (CHIP), which may contribute to their increased risk for cardiovascular disease.
SCIENTIFIC REPORTS
(2022)
Article
Medicine, General & Internal
Hellen Hiza, Jerry Hella, Ainhoa Arbues, Mohamed Sasamalo, Veronica Misana, Jacques Fellay, Sebastien Gagneux, Klaus Reither, Damien Portevin
Summary: This study found that CD38-TAM is an accurate marker of infection resolution in Tanzanian adult tuberculosis patients, independent of sputum bacterial load.
FRONTIERS IN MEDICINE
(2022)
Review
Biochemistry & Molecular Biology
Claire Redin, Christian W. Thorball, Jacques Fellay
Summary: SARS-CoV-2 infection shows a wide range of clinical presentations among individuals, and both human genetic variation and demographic factors contribute to the observed differences in disease severity. Recent advances in human genomic studies have identified common genetic variants associated with COVID-19 pneumonia and revealed gene defects in severe cases. These findings provide valuable insights into the pathogenesis and host-virus interactions of SARS-CoV-2, paving the way for personalized disease management.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Sarah Nadeau, Christian W. Thorball, Roger Kouyos, Huldrych F. Guenthard, Juerg Boeni, Sabine Yerly, Matthieu Perreau, Thomas Klimkait, Andri Rauch, Hans H. Hirsch, Matthias Cavassini, Pietro Vernazza, Enos Bernasconi, Jacques Fellay, Venelin Mitov, Tanja Stadler
Summary: Infectious diseases pose challenges for GWAS due to the influence of genetic effects from both pathogen and host. This research proposes a new method that estimates and removes heritable pathogen effects on a trait based on the pathogen phylogeny, restoring sample independence in GWAS. The method was tested in simulations and applied to data from two host-pathogen systems, showing its potential to increase GWAS power and provide insight into the evolutionary dynamics of traits in pathogen populations.
MOLECULAR BIOLOGY AND EVOLUTION
(2022)
Article
Medicine, General & Internal
Flavia Hodel, Olivier Naret, Clara Bonnet, Nicole Brenner, Noemi Bender, Tim Waterboer, Pedro Marques-Vidal, Peter Vollenweider, Jacques Fellay
Summary: Multiple human pathogens can cause chronic, sometimes lifelong infections, leading to chronic low-grade inflammation. This study found associations between infections by Chlamydia trachomatis and Helicobacter pylori, as well as pathogen burden, with higher levels of C-reactive protein.
Article
Medicine, Research & Experimental
Candelaria Vergara, Jeffrey F. Tuff, Jacques Fellay, Priya Duggal, Eileen P. Scully, Paul J. McLaren
Summary: Biological sex and host genetics influence HIV pathogenesis. Females have a higher likelihood of spontaneous viral control and lower set point viral load (spVL). We performed a sex-stratified genome-wide association study using data from the ICGH and identified sex-specific genetic variants and genes associated with HIV spVL and control. These findings provide valuable insights into understanding the role of sex-specific genetics in HIV.
Article
Biochemistry & Molecular Biology
Jonas de Tribolet-Hardy, Christian W. Thorball, Romain Forey, Evarist Planet, Julien Duc, Alexandre Coudray, Bara Khubieh, Sandra Offner, Cyril Pulver, Jacques Fellay, Michael Imbeault, Priscilla Turelli, Didier Trono
Summary: This study comprehensively investigates the genetic features and genomic targets of human KZFPs, revealing complex regulatory mechanisms associated with transposable elements that strongly influence human speciation.
Article
Mathematical & Computational Biology
Aurelie Cobat, Qian Zhang, Laurent Abel, Jean-Laurent Casanova, Jacques Fellay
Summary: SARS-CoV-2 infection can be asymptomatic or mild in most cases, but around 10% of individuals develop hypoxemic COVID-19 pneumonia. Studies on human genetics have identified both rare and common variants associated with life-threatening COVID-19 pneumonia. Large-scale genome-wide association studies have found over 20 common loci linked to COVID-19 pneumonia, some involving genes expressed in the lungs or leukocytes. The strongest association, on chromosome 3, involves a haplotype inherited from Neanderthals. Sequencing studies focusing on rare variants have successfully identified inborn errors of type I interferon (IFN) immunity in 1-5% of unvaccinated patients with critical pneumonia, and autoantibodies against type I IFN in another 15-20% of cases. Understanding the impact of human genetic variation on SARS-CoV-2 immunity helps improve protection in individuals and populations.
ANNUAL REVIEW OF BIOMEDICAL DATA SCIENCE
(2023)
Meeting Abstract
Genetics & Heredity
Eleonora Porcu, Christian Thorball, Alessandra Pia Porretta, Etienne Pruvot, Kim Wiskott, Federica Gilardi, Aurelien Thomas, Claire Redin, Zoltan Kutalik, Tony Fracasso, Olivier Muller, Jacques Fellay
Article
Genetics & Heredity
Olivier Naret, Zoltan Kutalik, Flavia Hodel, Zhi Ming Xu, Pedro Marques-Vidal, Jacques Fellay
Summary: Genome-wide association studies have shown that common diseases have a strong genetic component, and polygenic scores have been used to estimate individual risk. This study proposes incorporating genetic ancestry information to improve risk estimation. The method involves utilizing principal components derived from genome-wide genotyping data to generate an ancestry score, which improves genetic prediction for various phenotypes.
HUMAN GENETICS AND GENOMICS ADVANCES
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Alina A. Mikhailova, Alina G. Mikhailova, Victor Shamanskiy, Kristina Ushakova, Alima Galieva, Valeria Lobanova, Valeria Timonina, Valerian Yurov, Maria Olyanich, Dmitry Iliushchenko, Aleksandr Smirnov, Ilya Mazunin, Leonard Polishchuk, Dmitry Knorre, Konstantin Khrapko, Konstantin Gunbin, Jacques Fellay, Masashi Tanaka, Konstantin Popadin
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
