Article
Biology
Khai C. Ang, Victor A. Canfield, Tiffany C. Foster, Thaddeus D. Harbaugh, Kathryn A. Early, Rachel L. Harter, Katherine P. Reid, Shou Ling Leong, Yuka Kawasawa, Dajiang Liu, John W. Hawley, Keith C. Cheng
Summary: This study focused on a Native American population with high Native American genetic ancestry, aiming to investigate the impact of this ancestry on skin color variation. The results showed that Native American genetic ancestry had the greatest effect on reducing skin pigmentation, while genetic mutations from European and African ancestries had smaller effects. However, the specific genetic variants responsible for light skin in Native American/East Asian populations remain to be identified.
Article
Multidisciplinary Sciences
Eva Suarez-Pajes, Claudio Diaz-Garcia, Hector Rodriguez-Perez, Jose M. Lorenzo-Salazar, Itahisa Marcelino-Rodriguez, Almudena Corrales, Xiuwen Zheng, Ariel Callero, Eva Perez-Rodriguez, Jose C. Garcia-Robaina, Rafaela Gonzalez-Montelongo, Carlos Flores, Beatriz Guillen-Guio
Summary: A study identified a variant within HLA-DQB1 significantly associated with asthma risk in the Canary Islanders, along with a novel allele HLA-DQA1*01:02 linked to asthma protection, and a novel haplotype DQA1*01:02-DQB1*06:04 conferring asthma protection.
SCIENTIFIC REPORTS
(2021)
Review
Biochemistry & Molecular Biology
Eva Suarez-Pajes, Ana Diaz-de Usera, Itahisa Marcelino-Rodriguez, Beatriz Guillen-Guio, Carlos Flores
Summary: Admixed populations result from interbreeding of two or more ancestral populations, with genomes defined by inherited genetic tracts from these parental groups. Various methods can be used to determine the ancestry apportionment of admixed individuals, aiding in the discovery of genetic loci linked to diseases and traits. Admixture mapping studies in human diseases have significant biomedical implications.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Julie Lake, Caroline Warly Solsberg, Jonggeol Jeffrey Kim, Juliana Acosta-Uribe, Mary B. Makarious, Zizheng Li, Kristin Levine, Peter Heutink, Chelsea X. Alvarado, Dan Vitale, Sarang Kang, Jungsoo Gim, Kun Ho Lee, Stefanie D. Pina-Escudero, Luigi Ferrucci, Andrew B. Singleton, Cornelis Blauwendraat, Mike A. Nalls, Jennifer S. Yokoyama, Hampton L. Leonard
Summary: This study conducted the largest multi-ancestry genome-wide association study (GWAS) to date, including European, East Asian, African American, and Caribbean Hispanic populations. The findings identified two novel disease-associated loci and fine-mapped nine loci with high posterior probability. The study also compared the generalizability of multi-ancestry- and single-ancestry-derived polygenic risk scores in a three-way admixed Colombian population.
MOLECULAR PSYCHIATRY
(2023)
Article
Genetics & Heredity
Guanglin He, Jing Liu, Mengge Wang, Xing Zou, Tianyue Ming, Sumin Zhu, Hui-Yuan Yeh, Chuanchao Wang, Zheng Wang, Yiping Hou
Summary: Ancestry informative markers (AIMs) with significant allele frequency differences among diverse ethnic groups are attracting interest in the forensic community for population history reconstruction. This study used the Precision ID Ancestry Panel to analyze Chinese individuals, showing its potential as a robust tool in forensic individual identification. However, limitations in discriminatory power were observed in intercontinental individuals, highlighting the need for more specific AIM sets and comprehensive population reference data validation in the future.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2021)
Article
Evolutionary Biology
Tram Vi, Yves Vigouroux, Philippe Cubry, Pierre Marraccini, Ha Viet Phan, Giang Ngan Khong, Valerie Poncet
Summary: Humans have played a significant role in spreading crops beyond their native range, creating new opportunities for hybridization. Analyzing admixed genomes can provide valuable information about the adaptive history of crops and their impact on current varietal diversity.
GENOME BIOLOGY AND EVOLUTION
(2023)
Article
Respiratory System
Roberto Diaz-Pena, Rafael S. Silva, H. Dean Hosgood, Sergio Jaime, Marc Miravitlles, Jordi Olloquequi
Summary: This study is the first to report an association between HLA-DRB1 alleles, COPD risk, and pulmonary function parameters in Latin Americans, suggesting a role of autoimmunity in the pathogenesis of COPD.
ARCHIVOS DE BRONCONEUMOLOGIA
(2021)
Article
Gastroenterology & Hepatology
Hyun-seok Kim, Priya B. Shetty, Spiridon Tsavachidis, Jing Dong, Christopher I. Amos, Hashem B. El-Serag, Aaron P. Thrift
Summary: Admixture mapping identified novel genomic regions on 2q21.1 and 6p21.2 that may be associated with HCV-related cirrhosis risk in African Americans.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2023)
Review
Medicine, General & Internal
Thirumalaisamy P. Velavan, Srinivas Reddy Pallerla, Jule Rueter, Yolanda Augustin, Peter G. Kremsner, Sanjeev Krishna, Christian G. Meyer
Summary: The COVID-19 pandemic caused by SARS-CoV-2 presents a significant challenge, with disease severity influenced by factors such as age, gender, BMI, and pre-existing conditions. Host genetic predisposition is increasingly recognized, with numerous genetic variants associated with susceptibility and severity of COVID-19.
Article
Oncology
Valentina A. Zavala, Sandro Casavilca-Zambrano, Jeannie Navarro-Vasquez, Carlos A. Castaneda, Guillermo Valencia, Zaida Morante, Monica Calderon, Julio E. Abugattas, Henry Gomez, Hugo A. Fuentes, Ruddy Liendo-Picoaga, Jose M. Cotrina, Claudia Monge, Silvia P. Neciosup, Scott Huntsman, Donglei Hu, Sixto E. Sanchez, Michelle A. Williams, Angel Nunez-Marrero, Lenin Godoy, Aaron Hechmer, Adam B. Olshen, Julie Dutil, Elad Ziv, Jovanny Zabaleta, Bizu Gelaye, Jule Vasquez, Marco Galvez-Nino, Daniel Enriquez-Vera, Tatiana Vidaurre, Laura Fejerman
Summary: Genotyping analysis revealed an association between the rs140068132 polymorphism and decreased risk of breast cancer in Peruvian women, particularly in HR- and HER2(+) diseases, independently of other risk-associated variants.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2022)
Article
Clinical Neurology
Einat Granot-Hershkovitz, Wassim Tarraf, Nuzulul Kurniansyah, Martha Daviglus, Carmen R. Isasi, Robert Kaplan, Melissa Lamar, Krista M. Perreira, Sylvia Wassertheil-Smoller, Ariana Stickel, Bharat Thyagarajan, Donglin Zeng, Myriam Fornage, Charles S. DeCarli, Hector M. Gonzalez, Tamar Sofer
Summary: The study found that APOE ε4 is associated with an increased risk of cognitive decline in Latinos, with varying effects across different Latino backgrounds, and Amerindian genetic ancestry can protect against the risk conferred by APOE ε4 on cognitive decline.
ALZHEIMERS & DEMENTIA
(2021)
Review
Genetics & Heredity
Bharati Naik, Sumayyah M. Q. Ahmed, Suparna Laha, Shankar Prasad Das
Summary: Fungi have formed symbiotic relationships with different parts of the human body over time, and certain factors can trigger their transition to a pathogenic state. Host genetics play a crucial role in fungal infection, influencing the recognition between pathogen-associated molecular patterns and host pattern recognition receptor molecules through mutations.
FRONTIERS IN GENETICS
(2021)
Article
Clinical Neurology
Andrea R. V. R. Horimoto, Diane Xue, Timothy A. Thornton, Elizabeth E. Blue
Summary: Genome-wide analysis of Alzheimer's disease in Caribbean Hispanics identified a significant association with chromosome 3q13.11, driven by a protective effect conferred by Native American ancestry. This study highlights the relationship between AD and multiple genes at 3q13.11, showcasing the utility of genetic ancestry diversity via admixture mapping for new insights into AD.
ALZHEIMERS RESEARCH & THERAPY
(2021)
Article
Genetics & Heredity
Yang Luo, Masahiro Kanai, Wanson Choi, Xinyi Li, Saori Sakaue, Kenichi Yamamoto, Kotaro Ogawa, Maria Gutierrez-Arcelus, Peter K. Gregersen, Philip E. Stuart, James T. Elder, Lukas Forer, Sebastian Schoenherr, Christian Fuchsberger, Albert V. Smith, Jacques Fellay, Mary Carrington, David W. Haas, Xiuqing Guo, Nicholette D. Palmer, Yii-Der Ida Chen, Jerome I. Rotter, Kent D. Taylor, Stephen S. Rich, Adolfo Correa, James G. Wilson, Sekar Kathiresan, Michael H. Cho, Andres Metspalu, Tonu Esko, Yukinori Okada, Buhm Han, Paul J. McLaren, Soumya Raychaudhuri
Summary: By constructing a high-resolution reference panel based on whole-genome sequencing data, accurate imputation of HLA alleles across diverse populations and fine-mapping of HLA association signals for HIV-1 host response were achieved. The study demonstrated accurate imputation of HLA alleles in various global populations, and identified a novel association at position 156 in the HLA-B gene.
Review
Cell Biology
Somayeh Mohammadpour, Amir Torshizi Esfahani, Mehrdad Halaji, Mina Lak, Reza Ranjbar
Summary: The emergence of SARS-CoV-2 triggered a global pandemic of COVID-19, with varying severity and mortality rates. Understanding the biology of the virus requires a focus on both the infectious particle itself and the interactions between the virus and host cells.
JOURNAL OF CELLULAR PHYSIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Caitlin Uren, Eileen G. Hoal, Marlo Moller
Summary: Research on the relationship between MTBC and human host is limited, with focus on genetic association studies that have shown inconsistent results. There is a need to reconsider research methods and understand the coupled evolution of the pathogen and host as a possible key to resolving the issue.
HUMAN MOLECULAR GENETICS
(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.
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.