Review
Infectious Diseases
Chaohong Wang, Qing Sun, Jun Yan, Xinlei Liao, Sibo Long, Maike Zheng, Yun Zhang, Xinting Yang, Guangli Shi, Yan Zhao, Guirong Wang, Junhua Pan
Summary: This study provides an overview of the epidemiology and antimicrobial susceptibility of clinical Nocardia species in China. The most commonly isolated species were N. farcinica and N. cyriacigeorgica, with respiratory tract specimens being the most common source. Trimethoprim-sulfamethoxazole is recommended as the preferred treatment for Nocardia infection.
PLOS NEGLECTED TROPICAL DISEASES
(2023)
Review
Biochemistry & Molecular Biology
Bi-jun Wang, Jun-yi Chen, Yu Guan, Da-chao Liu, Zi-chuan Cao, Jin Kong, Zheng-Sheng Wu, Wen-Yong Wu
Summary: The meta-analysis conducted in this study found no significant association between P2RX7 rs3751143 polymorphism and the risk of cancer across different models.
BIOSCIENCE REPORTS
(2021)
Article
Immunology
Guiyi Ji, Miaomiao Zhang, Qianqian Liu, Shouquan Wu, Yu Wang, Guo Chen, Andrew J. Sandford, Jian-Qing He
Summary: The study found that single nucleotide polymorphisms of the NFE2L2 gene are associated with susceptibility to tuberculosis, potentially impacting the occurrence of tuberculosis through regulation of NFE2L2's transcriptional activity.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Medicine, General & Internal
Xiaohui Dong, Zongxin Zhang, Lihong Shou, Jingjing Shen
Summary: The meta-analysis did not find a significant association between IL-6 gene-174 G/C promoter polymorphism and the susceptibility of multiple myeloma. Different genotypes showed no increased risk of MM, indicating no evidence to support the relationship between IL-6 gene-174 G/C promoter polymorphism and MM susceptibility.
Article
Immunology
Qianqian Liu, Wenzhang Li, Yunfeng Chen
Summary: The meta-analysis did not find a significant association between IL-4 rs2243250 polymorphism and TB risk overall, but indicated a potential increase in TB risk in the European population with the recessive genetic model. Additional research is needed to clarify the ethnic differences in genetic association studies.
MICROBIAL PATHOGENESIS
(2021)
Review
Immunology
Jeroen Bok, Regina W. Hofland, Carlton A. Evans
Summary: Whole blood mycobacterial growth assays (WBMGA) have the potential for evaluating tuberculosis vaccines and identifying individuals at risk of tuberculosis. Studies have shown significant associations between WBMGA results and correlates of tuberculosis susceptibility, but no direct evidence on whether WBMGA results can predict actual susceptibility to tuberculosis infection or disease is available. Further optimization, standardization, and prospective studies are recommended to determine if WBMGA can predict susceptibility to tuberculosis disease.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Microbiology
Daniel A. Pfeffer, Ari Winasti Satyagraha, Arkasha Sadhewa, Mohammad Shafiul Alam, Germana Bancone, Yap Boum, Marcelo Brito, Liwang Cui, Zeshuai Deng, Gonzalo J. Domingo, Yongshu He, Wasif A. Khan, Mohammad Golam Kibria, Marcus Lacerda, Didier Menard, Wuelton Monteiro, Sampa Pal, Sunil Parikh, Arantxa Roca-Feltrer, Michelle Roh, Mahmoud M. Sirdah, Duoquan Wang, Qiuying Huang, Rosalind E. Howes, Ric N. Price, Benedikt Ley
Summary: This study investigates the variation in G6PD activity caused by different genetic variants and finds that different mutations can lead to varying degrees of enzyme deficiency. Some of these mutations are associated with clinically relevant enzymatic deficiencies.
Article
Immunology
Miaomiao Zhang, Guo Chen, Jian-Qing He
Summary: This study found that variations in the TLR6 gene are associated with tuberculosis risk in the Tibetan population. Through analysis of tagSNPs, significant associations were discovered between specific gene haplotypes and tuberculosis risk. This study is important for understanding the differences in tuberculosis among different populations in China.
MICROBIAL PATHOGENESIS
(2022)
Review
Medicine, General & Internal
Jie He, Lingmeng Song, Pengcheng Zheng
Summary: The study aimed to evaluate the significance of IL-4 concentration in patients with tuberculosis. The results showed a significantly increased level of serum IL-4 in patients with tuberculosis, while there was no significant difference in plasma IL-4 levels. Subgroup analysis revealed that Asian populations had higher serum IL-4 levels in tuberculosis patients. Patients with active tuberculosis and pulmonary tuberculosis also exhibited increased serum IL-4 levels.
Article
Immunology
Evangeline Ann Daniel, Balakumaran Sathiyamani, Kannan Thiruvengadam, Sandhya Vivekanandan, Hemanathan Vembuli, Luke Elizabeth Hanna
Summary: This study systematically reviewed the role of host miRNAs in tuberculosis diagnosis and evaluated their involvement in the immune response to Mycobacterium tuberculosis (Mtb). The results revealed that miR-31 showed the highest diagnostic accuracy and could serve as a potential biomarker for rapid tuberculosis detection.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Infectious Diseases
Ayinalem Alemu, Zebenay Workneh Bitew, Getu Diriba, Balako Gumi
Summary: This study aimed to assess the risk factors associated with DR-TB in Ethiopia using systematic analysis. Findings revealed that unemployment, previous TB history, contact with TB patients, contact with MDR-TB patients, and having PTB are major risk factors for DR-TB in Ethiopia. Conversely, elders and males showed lower risk of DR-TB. The study suggests active screening of TB contacts could help to detect DR-TB cases early and mitigate further transmission in the community.
TRANSBOUNDARY AND EMERGING DISEASES
(2022)
Review
Engineering, Chemical
Nang Hoang Pham, Phuong Kim Truong, Thuan Duc Lao, Thuy Ai Huyen Le
Summary: PCSK9 gene mutations are associated with lipid metabolism and atherosclerotic cardiovascular disease. GOF and LOF mutations have a higher proportion in Asia and Africa, with the first and second exons being identified as hot spots for mutation in PCSK9.
Review
Multidisciplinary Sciences
Ayinalem Alemu, Zebenay Workneh Bitew, Getu Diriba, Getachew Seid, Shewki Moga, Saro Abdella, Emebet Gashu, Kirubel Eshetu, Getachew Tollera, Mesay Hailu Dangisso, Balako Gumi
Summary: This study aimed to assess the poor treatment outcome and associated risk factors among patients with isoniazid mono-resistant TB. The results showed that patients with isoniazid mono-resistant TB had high poor treatment outcome, with higher prevalence in the South East Asian and African regions. Factors associated with poor treatment outcome included previous TB treatment, having cancer, and being initially smear positive. On the other hand, patients who took rifampicin in the continuation phase, had extrapulmonary TB, and took second-line injectable drugs had reduced risk of poor treatment outcome.
Review
Medicine, General & Internal
Kefyalew Addis Alene, Kinley Wangdi, Samantha Colquhoun, Kudakwashe Chani, Tauhid Islam, Kalpeshsinh Rahevar, Fukushi Morishita, Anthony Byrne, Justin Clark, Kerri Viney
Summary: This study analyzed 131 studies from 49 countries with a total of 217,475 patients to quantify the prevalence and types of TB-related disabilities. The most common disabilities included mental health disorders, respiratory impairment, and musculoskeletal impairment. The prevalence of respiratory impairment and mental health disorders was highest in low-income countries.
Article
Immunology
Shuyuan Liu, Nannan Liu, Hui Wang, Xinwen Zhang, Yufeng Yao, Shuqiong Zhang, Li Shi
Summary: The study found an association between CCR5 promoter polymorphisms and pulmonary TB and TB progression in the Chinese Han population.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Clinical Neurology
Haiko Schurz, Brigitte Glanzmann, Nicholas Bowker, Ronald van Toorn, Regan Solomons, Johan Schoeman, Paul D. van Helden, Craig J. Kinnear, Eileen G. Hoal, Marlo Moeller
Summary: This study investigated the involvement of the host genome in susceptibility to tuberculous meningitis (TBM) using genotyping and sequencing methods. The results suggest that genes NOD2 and CYP4F2 may play important roles in the pathogenesis of TBM, while Centriolar Coiled-Coil Protein 110 (CCP110) may be associated with susceptibility to TBM.
FRONTIERS IN NEUROLOGY
(2022)
Editorial Material
Genetics & Heredity
Desiree C. Petersen, Chrystal Steyl, Denise Scholtz, Bienyameen Baker, Ibtisam Abdullah, Caitlin Uren, Marlo Moeller, Host Genet Project
FRONTIERS IN GENETICS
(2022)
Article
Multidisciplinary Sciences
Yolandi Swart, Gerald van Eeden, Caitlin Uren, Gian van der Spuy, Gerard Tromp, Marlo Moeller
Summary: This study presents a robust method called local ancestry adjusted allelic (LAAA) analysis for discovering association signals. The researchers simulated three- and five-way admixed populations and found that the LAAA model identifies the most causal variants in most of the tested phenotypes.
Article
Multidisciplinary Sciences
Christina Meiring, Haiko Schurz, Paul van Helden, Eileen Hoal, Gerard Tromp, Craig Kinnear, Leanie Kleynhans, Brigitte Glanzmann, Louis van Schalkwyk, Michele Miller, Marlo Moeller
Summary: African wild dogs are an endangered species with low genomic diversity, and this study provides the first population-wide genomic data for this species. The analysis reveals low levels of variation and some inbreeding, which may lead to population decline when suitable mates are limited. The study highlights the importance of assessing population genomic parameters for setting conservation priorities.
SCIENTIFIC REPORTS
(2022)
Review
Genetics & Heredity
Carene Anne Alene Ndong Sima, Dayna Smith, Desiree C. Petersen, Haiko Schurz, Caitlin Uren, Marlo Moller
Summary: Tuberculosis (TB) caused by Mycobacterium tuberculosis (Mtb) is the leading cause of death due to a single bacterial agent, with approximately 10.6 million people developing active disease and 1.6 million deaths reported globally in 2021. Host genetics play an important role in the inter-individual variabilities in infection and disease phenotypes. This review provides an overview of studies on TB genetic susceptibility, including approaches, findings, and limitations, and highlights the use of linkage analyses and association studies to discover genetic markers associated with TB susceptibility. The identification of host genetic factors influencing TB susceptibility/resistance is crucial for understanding the disease and developing better preventive measures and treatments.
Article
Multidisciplinary Sciences
Joseph Ochieng, Betty Kwagala, John Barugahare, Marlo Moller, Keymanthri Moodley
Summary: This study assessed the perspectives of grassroots communities in Uganda on the feedback of individual genetics and genomics testing results. The findings showed that individuals in these communities were willing to participate in such research and receive feedback of results, as long as there was a health benefit. However, there were concerns regarding the misconception of therapeutic and/or diagnostic benefits, as well as the perception of using genetics results to confirm paternity. These findings have important implications for research ethics guidance and the process of obtaining informed consent.
Article
Education, Scientific Disciplines
Kathleen E. E. Crombie, Kenneth D. D. Crombie, Muneeb Salie, Soraya Seedat
Summary: Tertiary education in post-apartheid South Africa faces challenges of class, language, and race, highlighted by recent student protests. This study examines mistreatment of medical students at a South African university, finding it to be prevalent and associated with psychological distress. The study also reveals high rates of racial and gender discrimination, indicating a need for change.
TEACHING AND LEARNING IN MEDICINE
(2023)
Review
Medicine, Research & Experimental
Carola Oelofse, Carene Anne Alene Ndong Sima, Marlo Moller, Caitlin Uren
Summary: Globally, tuberculosis (TB) is a significant infectious disease, with the highest burden in sub-Saharan Africa. Implementing pharmacogenetics (PGx) in routine clinical care has been slow due to cost concerns, but it could significantly improve TB treatment and resource allocation. A point-of-care pre-emptive PGx test could optimize drug combinations and reduce the number of patients returning to clinical care. Investing in PGx research in African populations could lead to improved treatments and long-term cost savings for TB.
CTS-CLINICAL AND TRANSLATIONAL SCIENCE
(2023)
Article
Multidisciplinary Sciences
Aaron P. Ragsdale, Timothy D. Weaver, Elizabeth G. Atkinson, Eileen G. Hoal, Marlo Moeller, Brenna M. Henn, Simon Gravel
Summary: Despite consensus that human originated in Africa, uncertainty remains regarding specific models of divergence and migration in the continent. This is due to limited fossil and genomic data, as well as variable estimates of divergence times. To address this, we use linkage disequilibrium and diversity-based statistics to infer detailed demographic models for populations across Africa. Our findings suggest a reticulated African population history, with the earliest population divergence occurring 120,000 to 135,000 years ago and gene flow between weakly differentiated ancestral Homo populations. This challenges previous attributions of patterns of polymorphism to archaic hominins in Africa.
Article
Multidisciplinary Sciences
Mackenzie H. Smith, Justin W. Myrick, Oshiomah Oyageshio, Caitlin Uren, Jamie Saayman, Sihaam Boolay, Lena van der Westhuizen, Cedric Werely, Marlo Moeller, Brenna M. Henn, Austin W. Reynolds
Summary: This study aimed to determine the prevalence and predictors of overweight and obesity in a multi-ethnic cohort from the rural Northern Cape of South Africa. The results showed that being female, older, having higher education, having diabetes, and living in a rural area were positively associated with BMI. On the other hand, being a smoker was negatively associated with BMI and decreased the odds of being overweight or obese.
Article
Anthropology
Austin W. Reynolds, Mark N. Grote, Justin W. Myrick, Dana R. Al-Hindi, Rebecca L. Siford, Mira Mastoras, Marlo Moeller, Brenna M. Henn
Summary: Factors such as subsistence turnover, warfare, or interaction between different groups are major sources of cultural change in human populations. Global demographic shifts like the transition to agriculture during the Neolithic and urbanization/globalization in the twentieth century have also played a significant role. In postcolonial South Africa, despite colonial expansion and forced assimilation, recent integration into the market economy seems to be the primary driver of change in cultural traits. The frequency of matrilocal residence and a geographic/temporal cline in migration and residence patterns suggest the persistence of some historic Khoe-San cultural traits.
HUMAN NATURE-AN INTERDISCIPLINARY BIOSOCIAL PERSPECTIVE
(2023)
Review
Biochemistry & Molecular Biology
Denise Scholtz, Tracey Jooste, Marlo Moller, Ansia van Coller, Craig Kinnear, Brigitte Glanzmann
Summary: Inborn errors of immunity (IEI) are genetic disorders that can range from increased susceptibility to infections to immune impairment. IEI cases collectively represent a significant burden of disease, especially in developing countries where infectious diseases are endemic. Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a high penetrance mutation that puts individuals at higher risk for developing tuberculosis (TB) and other mycobacterial diseases. The challenges in diagnosing MSMD in South Africa, including lack of available data and variability in clinical phenotype, call for the use of transcriptomic analysis to potentially identify dysregulated pathways in affected African populations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Elouise E. Kroon, Wilian Correa-Macedo, Rachel Evans, Allison Seeger, Lize Engelbrecht, Jurgen A. Kriel, Ben Loos, Naomi Okugbeni, Marianna Orlova, Pauline Cassart, Craig J. Kinnear, Gerard C. Tromp, Marlo Moller, Robert J. Wilkinson, Anna K. Coussens, Erwin Schurr, Eileen G. Hoal
Summary: Persons living with HIV who never develop tuberculosis and show no immune sensitization to Mycobacterium tuberculosis have been identified as HIV+ persistently TB, tuberculin, and IGRA negative (HITTIN). In this study, their neutrophil Mtb infection response was compared to PLWH with no TB history but who test persistently IGRA positive and tuberculin positive (HIT). The HITTIN group exhibited distinct innate mechanisms in response to Mtb infection.
Meeting Abstract
Genetics & Heredity
Clement Conil, Jeremy Manry, Elouise E. Kroon, Marc A. Jean-Juste, Marlo Moller, Jean-Laurent Casanova, Eileen G. Hoal, Erwin Schurr, Laurent Abel, Aurelie Cobat
GENETIC EPIDEMIOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Gerald van Eeden, Caitlin Uren, Evlyn Pless, Mira Mastoras, Gian D. van der Spuy, Gerard Tromp, Brenna M. Henn, Marlo Moller
Summary: Recombination maps are important resources for epidemiological and evolutionary analyses. However, there are currently no recombination maps representing any African population outside of those with West African ancestry. This study compares the demographic history and recombination landscape of the Nama, an indigenous Khoe-San population of southern Africa, with other African populations and finds that the Nama recombination landscape does not cluster with any continental groups with publicly available representative recombination maps. The study also highlights the potential impact of fine-scale differences in recombination on the outcome of selection scans.
