Article
Ecology
Prabodh Kumar Bajpai, Arye Harel, Sharoni Shafir, Oz Barazani
Summary: This study explored ecotypic differentiation in populations of Eruca sativa from arid and Mediterranean habitats at the genomic level. The results showed that climatic conditions significantly influenced genetic diversity, and genes related to transcription factors and phytohormone signaling played a crucial role in adaptation to both abiotic and biotic conditions.
FRONTIERS IN ECOLOGY AND EVOLUTION
(2022)
Review
Pharmacology & Pharmacy
Christopher A. Blackwood, Jean Lud Cadet
Summary: Opioid use disorder is on the rise in the United States, with racial disparities observed in opioid overdose deaths. The compulsive drug consumption, withdrawal, and relapse, along with epigenetic changes and genetic factors in some racial groups, may impact responses to pharmacological therapeutic approaches.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Virology
Vanessa E. Schulz, Jeffrey F. Tuff, Riley H. Tough, Lara Lewis, Benjamin Chimukangara, Nigel Garrett, Quarraisha Abdool Karim, Salim S. Abdool Karim, Lyle R. Mckinnon, Ayesha B. M. Kharsany, Paul J. Mclaren
Summary: This study identifies the association between genetic variations near CHD1L and HIV viral replication control in a South African population, and further uncovers the impact of other genes on HIV viral genes.
JOURNAL OF VIROLOGY
(2023)
Article
Multidisciplinary Sciences
Marty Kardos, Ellie E. Armstrong, Sarah W. Fitzpatrick, Samantha Hauser, Philip W. Hedrick, Joshua M. Miller, David A. Tallmon, W. Chris Funk
Summary: Conserving genome-wide genetic variation is generally the best approach to prevent inbreeding depression and loss of adaptive potential, while focusing on functional genetic variation is not always feasible and can often lead to misleading and counterproductive outcomes.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Oncology
Dong Han, Jude N. Owiredu, Bridget M. Healy, Muqing Li, Maryam Labaf, Jocelyn S. Steinfeld, Susan Patalano, Shuai Gao, Mingyu Liu, Jill A. Macoska, Kourosh Zarringhalam, Kellee R. Siegfried, Xin Yuan, Timothy R. Rebbeck, Changmeng Cai
Summary: Prostate cancer affects men of African ancestry disproportionately with higher prevalence and worse outcomes compared to American men of European ancestry. Genetic variations such as SNP, particularly in the NEDD9 gene, may play a crucial role in driving racial disparities in prostate cancer aggressiveness and treatment outcomes. The identified prostate cancer susceptibility SNP in NEDD9 increases NEDD9 expression and promotes tumor growth and metastasis, providing new insights into the genetic mechanisms of prostate cancer disparities.
Article
Biochemistry & Molecular Biology
Abram B. Kamiza, Sounkou M. Toure, Marijana Vujkovic, Tafadzwa Machipisa, Opeyemi S. Soremekun, Christopher Kintu, Manuel Corpas, Fraser Pirie, Elizabeth Young, Dipender Gill, Manjinder S. Sandhu, Pontiano Kaleebu, Moffat Nyirenda, Ayesha A. Motala, Tinashe Chikowore, Segun Fatumo
Summary: A study has found that polygenic scores for lipid traits derived from African American individuals have high predictive value in a South African Zulu cohort, but not in a cohort from Uganda. This highlights the need to improve polygenic predictions in populations of African ancestries.
Article
Entomology
Mahamadi Kientega, Nace Kranjc, Nouhoun Traore, Honorine Kabore, Dieudonne Diloma Soma, Ioanna Morianou, Moussa Namountougou, Adrien Marie Gaston Belem, Abdoulaye Diabate
Summary: The study characterized the genetic variation of the Fruitless gene in 18 populations of An. gambiae s.l. in Africa, revealing low genetic variation in the exonic regions with high conservation scores and low allelic frequencies of non-synonymous SNPs. These findings suggest the potential for developing a gene drive construct targeting the fru gene for efficient spread in wild populations.
Review
Genetics & Heredity
Thais C. C. De Oliveira, Rodrigo Secolin, Iscia Lopes-Cendes
Summary: Genomics can provide valuable insights into the demographic evolution of populations and has been increasingly used in studying genetic structure and diversity. However, there is a lack of genomic data from Latin America and the Caribbean, which needs to be addressed through further research.
FRONTIERS IN GENETICS
(2023)
Review
Cell Biology
Huan Xu, Hui Yu, Runming Jin, Xiaoyan Wu, Hongbo Chen
Summary: Acute lymphoblastic leukemia is characterized by genetic and epigenetic abnormalities, with epigenetic mechanisms playing a significant role in leukemogenesis. Compared to genetic alterations, epigenetic abnormalities are relatively reversible with small molecule-based agents.
Article
Biodiversity Conservation
Enrico Bazzicalupo, Maria Lucena-Perez, Daniel Kleinman-Ruiz, Aleksandar Pavlov, Aleksander Trajce, Bledi Hoxha, Bardh Sanaja, Zurab Gurielidze, Niko Kerdikoshvili, Jimsher Mamuchadze, Yuriy A. Yarovenko, Muzigit Akkiev, Miroslaw Ratkiewicz, Alexander P. Saveljev, Dime Melovski, Alexander Gavashelishvili, Krzysztof Schmidt, Jose A. Godoy
Summary: Genome-wide genetic assessment of Balkan and Caucasian Eurasian lynx populations revealed close relationship and low genetic diversity with high inbreeding in Balkan lynx, while Caucasian lynx showed a long history of isolation with high genetic diversity and good genetic health, suggesting the need for genetic rescue in Balkan lynx and the recognition of Caucasian lynx as a separate subspecies.
DIVERSITY AND DISTRIBUTIONS
(2022)
Article
Biochemistry & Molecular Biology
Bernice Sepers, Rebecca Shuhua Chen, Michelle Memelink, Koen J. F. Verhoeven, Kees van Oers
Summary: As environmental fluctuations become more frequent, organisms need to adapt quickly to changes caused by humans, climate, and ecology. Epigenetic modifications, specifically DNA methylation, play a role in shaping a organism's phenotypic responses during development. While studies have shown that environmentally induced DNA methylation changes occur, we have limited understanding of the proportion of the epigenome affected by environmental factors compared to genetic variation. In this study, using a partial cross-foster design in a great tit population, we found that common origin explained the variance in DNA methylation in 8,315 CpG sites while common rearing environment only explained 101 sites. Furthermore, we identified quantitative trait loci for the CpG sites related to brood origin, with 754 cis and 4,202 trans methylation quantitative trait loci involving 24% of the CpG sites. These findings suggest that the influence of environmentally induced methylation marks, independent of genotype, is limited and that genetic factors play a larger role in determining DNA methylation variation early in life.
MOLECULAR BIOLOGY AND EVOLUTION
(2023)
Article
Pharmacology & Pharmacy
David Twesigomwe, Britt Drogemoller, Galen E. B. Wright, Clement Adebamowo, Godfred Agongo, Palwende R. Boua, Mogomotsi Matshaba, Maria Paximadis, Michele Ramsay, Gustave Simo, Martin C. Simuunza, Caroline T. Tiemessen, Zane Lombard, Scott Hazelhurst
Summary: This study investigates the distribution of CYP2D6 star alleles and predicted drug metabolizer phenotypes in multiple sub-Saharan African populations. The results show varying frequencies of known alleles and phenotypes across different African ethnolinguistic groups, and identify 27 novel star alleles. This research highlights the importance of studying key pharmacogenes in the African context to better understand population-specific allele frequencies.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Medicine, General & Internal
Elizabeth Jordan, Daniel D. Kinnamon, Garrie J. Haas, Mark Hofmeyer, Evan Kransdorf, Gregory A. Ewald, Alanna A. Morris, Anjali Owens, Brian Lowes, Douglas Stoller, W. H. Wilson Tang, Sonia Garg, Barry H. Trachtenberg, Palak Shah, Salpy V. Pamboukian, Nancy K. Sweitzer, Matthew T. Wheeler, Jane E. Wilcox, Stuart Katz, Stephen Pan, Javier Jimenez, Daniel P. Fishbein, Frank Smart, Jessica Wang, Stephen S. Gottlieb, Daniel P. Judge, Charles K. Moore, Jonathan O. Mead, Natalie Hurst, Jinwen Cao, Gordon S. Huggins, Jason Cowan, Hanyu Ni, Heidi L. Rehm, Gail P. Jarvik, Matteo Vatta, Wylie Burke, Ray E. Hershberger
Summary: This study compares the rare variant genetic architecture of dilated cardiomyopathy (DCM) among patients with DCM who are of African ancestry compared with European ancestry. The study found that African patients with DCM were less likely to have clinically actionable variants in DCM genes than those of European ancestry due to differences in genetic architecture and a lack of representation of African ancestry in clinical data sets.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2023)
Article
Neurosciences
Chaitanya Srinivasan, BaDoi N. Phan, Alyssa J. Lawler, Easwaran Ramamurthy, Michael Kleyman, Ashley R. Brown, Irene M. Kaplow, Morgan E. Wirthlin, Andreas R. Pfenning
Summary: Recent studies have identified multiple risk loci associated with addiction-related traits, most of which are located in noncoding regions that may disrupt CRE function. By comparing GWAS with genomic regions associated with open chromatin, researchers found enrichment of addiction-associated variants in specific brain regions involved in reward and addiction. The findings suggest that different neuronal subtypes within the reward system play distinct roles in various addiction-related traits.
JOURNAL OF NEUROSCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Christen M. Bossu, Marina Rodriguez, Christine Rayne, Debra A. Chromczak, Philip G. Higgins, Lynne A. Trulio, Kristen C. Ruegg
Summary: The accelerating loss of global biodiversity is worsened by habitat fragmentation and inbreeding in small populations. To address this issue, conservation practitioners often use assisted breeding programs to increase genetic diversity in declining populations. This study demonstrates the value of genomic approaches in enhancing genetic diversity through assisted breeding efforts, focusing on a highly inbred population of Western burrowing owls. The findings highlight the importance of genomic tools in preserving the adaptive potential of small, inbred populations at risk of further decline.
Article
Rheumatology
Jacqueline Frost, Xavier Estivill, Michele Ramsay, Mohammed Tikly
CLINICAL RHEUMATOLOGY
(2019)
Article
Multidisciplinary Sciences
Mahtaab Hayat, Robyn Kerr, Amy R. Bentley, Charles N. Rotimi, Frederick J. Raal, Michele Ramsay
Review
Biochemistry & Molecular Biology
Ananyo Choudhury, Dhriti Sengupta, Michele Ramsay, Carina Schlebusch
Summary: Southern Africa is one of the earliest abodes of anatomically modern humans, with multiple major migrations reshaping the population and leading to a mix of distinct ancestries. Recent studies have refined our understanding of the timelines and routes of Bantu-speaking populations migrating to the region and mixing with local populations. Additionally, there is evidence of fine-scale population structure within certain Bantu-speaking groups in Southeastern Africa.
HUMAN MOLECULAR GENETICS
(2021)
Review
Genetics & Heredity
Luisa Pereira, Leon Mutesa, Paulina Tindana, Michele Ramsay
Summary: African populations have rich genetic diversity and a long evolutionary history, but recent exposures to new pathogens and lifestyle changes may lead to health risks from certain genetic variants. African genomic studies offer highly valuable insights into the genomics and molecular basis of health and disease, but limited research on African populations globally hinders the applicability of precision medicine approaches.
NATURE REVIEWS GENETICS
(2021)
Article
Pharmacology & Pharmacy
Jenny Mary Mathew, Phelelani Thokozani Mpangase, Dhriti Sengupta, Stanford Kwenda, Demetra Mavri-Damelin, Michele Ramsay
Summary: The study identified a novel cis-eQTL, rs28967009, for UGT1A1 which may affect the metabolism of dolutegravir and irinotecan, commonly prescribed for HIV and colorectal cancer in South Africa. Patients with the rs28967009A variant may require personalized treatment to achieve therapeutic levels.
Article
Genetics & Heredity
Jorge E. B. da Rocha, Houcemeddine Othman, Caroline T. Tiemessen, Gerrit Botha, Michele Ramsay, Collen Masimirembwa, Clement Adebamowo, Ananyo Choudhury, Jean-Tristan Brandenburg, Mogomotsi Matshaba, Gustave Simo, Francisco-Javier Gamo, Scott Hazelhurst
Summary: Variants in the G6PD gene among individuals from sub-Saharan Africa show significant diversity, potentially impacting the efficacy of chloroquine/hydroxychloroquine in COVID-19 treatment. Allele frequency differences in G6PD deficiency-related variants exist among different African sub-populations, which may affect drug efficacy and side effects.
PHARMACOGENOMICS JOURNAL
(2021)
Article
Urology & Nephrology
Jean-Tristan Brandenburg, Melanie A. Govender, Cheryl A. Winkler, Palwende Romuald Boua, Godfred Agongo, June Fabian, Michele Ramsay
Summary: This study investigated the prevalence of APOL1 risk alleles and their association with kidney disease in different regions of Africa. The results showed that APOL1 risk variants were significantly associated with albuminuria but not eGFR decline. The frequencies of high-risk genotypes differed between different regions of Africa.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Evans M. Mathebula, Dhriti Sengupta, Nimmisha Govind, Vincent A. Laufer, S. Louis Bridges, Mohammed Tikly, Michele Ramsay, Ananyo Choudhury
Summary: The study conducted a genome-wide association analysis on South-Eastern Bantu-speaking South Africans with seropositive RA. The results identified significant associations in the HLA region and suggestive associations in other genomic regions. In addition, the study provided evidence for replication of non-HLA signals for RA in sub-Saharan African populations.
HUMAN MOLECULAR GENETICS
(2022)
Article
Pharmacology & Pharmacy
David Twesigomwe, Britt Drogemoller, Galen E. B. Wright, Clement Adebamowo, Godfred Agongo, Palwende R. Boua, Mogomotsi Matshaba, Maria Paximadis, Michele Ramsay, Gustave Simo, Martin C. Simuunza, Caroline T. Tiemessen, Zane Lombard, Scott Hazelhurst
Summary: This study investigates the distribution of CYP2D6 star alleles and predicted drug metabolizer phenotypes in multiple sub-Saharan African populations. The results show varying frequencies of known alleles and phenotypes across different African ethnolinguistic groups, and identify 27 novel star alleles. This research highlights the importance of studying key pharmacogenes in the African context to better understand population-specific allele frequencies.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Health Care Sciences & Services
Michelle Kamp, Oliver Pain, Andrew May, Cathryn M. Lewis, Michele Ramsay
Summary: Cardiovascular diseases are a major cause of death and illness in South Africa. Assessing genetic risk could improve disease stratification and inform precision medicine approaches. However, practicing clinicians in South Africa have limited genetic knowledge and resources, which hinder the adoption of precision medicine-based risk stratification.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Public, Environmental & Occupational Health
Monica Muti, Lisa J. Ware, Lisa K. Micklesfield, Michele Ramsay, Godfred Agongo, Palwende R. Boua, Isaac Kisiangani, Ian Cook, Francesc Xavier Gomez-Olive, Nigel J. Crowther, Chodziwadziwa Kabudula, Shane A. Norris, Tinashe Chikowore
Summary: This study explores the association between self-reported physical activity and body mass index (BMI) in African adults. Results show that meeting physical activity guidelines is associated with lower BMI in both men and women. There are also site-specific differences in the associations between physical activity domains and BMI. In conclusion, physical activity may be an effective strategy to address obesity in Africa, but more research is needed to assess the impact of interventions tailored to gender and geographic location.
JOURNAL OF PHYSICAL ACTIVITY & HEALTH
(2023)
Article
Biology
Cassandra C. Soo, Jean-Tristan Brandenburg, Almut Nebel, Stephen Tollman, Lisa Berkman, Michele Ramsay, Ananyo Choudhury
Summary: Cognitive function is important for overall physical and mental health. This study used cognitive tests to assess 2,246 adults in a rural South African community and found a genetic variant associated with episodic memory. Despite the small population size, the study provides insights into cognitive pathways specific to Africans and paves the way for further genomic research on cognition in Africa.
COMMUNICATIONS BIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Nqoba Tsabedze, Michele Ramsay, Amanda Krause, Quinn Wells, Dineo Mpanya, Pravin Manga
Summary: This review discusses the prevalence of dilated cardiomyopathy (DCM) in sub-Saharan Africa and the current state of research on the genetic basis and genetic testing for DCM in this population.
HEART FAILURE REVIEWS
(2023)
Article
Pharmacology & Pharmacy
David Twesigomwe, Britt I. Droegemoeller, Galen E. B. Wright, Clement Adebamowo, Godfred Agongo, Palwende R. Boua, Mogomotsi Matshaba, Maria Paximadis, Michele Ramsay, Gustave Simo, Martin C. Simuunza, Caroline T. Tiemessen, Zane Lombard, Scott Hazelhurst
Summary: This study provides important findings on the distribution and predicted phenotypes of star alleles in CYP2B6 and CYP2A6 genes in African populations. It also identifies potential novel African-ancestry star alleles. These results are significant for guiding personalized medicine strategies and the design of pharmacogenetic testing platforms.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Biology
Melanie A. Govender, June Fabian, Errol Gottlich, Cecil Levy, Glenda Moonsamy, Heather Maher, Cheryl A. Winkler, Michele Ramsay
COMMUNICATIONS BIOLOGY
(2019)