Human Heredity Research Articles

Enhancing students' numeracy literacy in human heredity material through a brain-based learning model

In this digital era, data and information in biology are increasingly presented in quantitative form that must be processed and interpreted. To deal with this, students' numeracy literacy becomes essential to train. This study aims to reveal an increase in students' numeracy literacy by implementing the brain-based learning model. This study used a quasi-experimental method with a pretest-posttest non-equivalent group design. The sample consisted of 28 students in the experimental class and 30 students in the control class who had been selected by random sampling. The instruments used were question sheets with various types, such as the Minimum Competency Assessment (MCA) questions. The findings of this study indicate that the experimental class has a higher N-Gain Score, which is 0.71 with high criteria, while in the control class, it is 0.60 with a moderate category. The better N-Gain Score can also be seen from each numeracy literacy indicator's analysis. This indicates that the brain-based learning model improves students' numeracy literacy more effectively. Based on these findings, further research can conduct a long-term study of applying the brain-based learning model to students' numeracy literacy to understand the sustainability of the improvements.Abstrak. Di era digital ini, data dan informasi dalam ilmu biologi semakin banyak disajikan dalam bentuk kuantitatif yang harus diproses dan diinterpretasikan. Dalam rangka menghadapi hal tersebut, literasi numerasi siswa menjadi hal yang penting untuk dilatih. Tujuan penelitian ini adalah untuk mengungkap adanya peningkatan literasi numerasi siswa melalui implementasi Model Brain Based Learning. Penelitian ini menggunakan metode eksperimen semu dengan desain pretest posttest non-equivalent group design. Sampel terdiri dari 28 siswa pada kelas eksperimen dan 30 orang siswa kelas kontrol yang telah dipilih secara random sampling. Instrumen yang digunakan adalah lembar soal dengan berbagai tipe seperti pada soal Asesmen Kompetensi Minimum (AKM). Temuan penelitian ini menunjukkan bahwa kelas eksperimen memiliki N-Gain Score yang lebih tinggi, yaitu sebesar 0.71 dengan kriteria tinggi, sedangkan pada kelas kontrol sebesar 0.60 dengan kategori sedang. Perolehan N-Gain Score yang lebih baik juga terlihat dari analisis setiap indikator literasi numerasi yang diteliti. Hal ini menandakan bahwa model Brain Based Learning lebih efektif dalam meningkatkan literasi numerasi siswa. Berdasarkan temuan tersebut, penelitian berikutnya dapat melakukan analisis jangka panjang dari penerapan Model Brain Based Learning terhadap literasi numerasi siswa untuk memahami keberlanjutan peningkatan yang dicapai.

Determinants of lung function development from birth to age 5 years: an interrupted time series analysis of a South African birth cohort

Early life is a key period that determines long-term health. Lung development in childhood predicts lung function attained in adulthood and morbidity and mortality across the life course. We aimed to assess the effect of early-life lower respiratory tract infection (LRTI) and associated risk factors on lung development from birth to school age in a South African birth cohort. We prospectively followed children enrolled in a population-based cohort from birth (between March 5, 2012 and March 31, 2015) to age 5 years with annual lung function assessment. Data on multiple early-life exposures, including LRTI, were collected. The effect of early-life risk factors on lung function development from birth to age 5 years was assessed using the Generalised Additive Models for Location, Scale and Shape and Interrupted Time Series approach. 966 children (475 [49·2%] female, 491 [50·8%] male) had lung function measured with oscillometry, tidal flow volume loops, and multiple breath washout. LRTI occurred in 484 (50·1%) children, with a median of 2·0 LRTI episodes (IQR 1·0-3·0) per child. LRTI was independently associated with altered lung function, as evidenced by lower compliance (0·959 [95% CI 0·941-0·978]), higher resistance (1·028 [1·016-1·041]), and higher respiratory rate (1·018 [1·063-1·029]) over 5 years. Additional impact on lung function parameters occurred with each subsequent LRTI. Respiratory syncytial virus (RSV) LRTI was associated with lower expiratory flow ratio (0·97 [0·95-0·99]) compared with non-RSV LRTI. Maternal factors including allergy, smoking, and HIV infection were also associated with altered lung development, as was preterm birth, low birthweight, female sex, and coming from a less wealthy household. Public health interventions targeting LRTI prevention, with RSV a priority, are vital, particularly in low-income and middle-income settings. UK Medical Research Council Grant, The Wellcome Trust, The Bill & Melinda Gates Foundation, US National Institutes of Health Human Heredity and Health in Africa, South African Medical Research Council, Hungarian Scientific Research Fund, and European Respiratory Society.

Theodore M. Porter, Genetics in the Madhouse: The Unknown History of Human Heredity

Theodore M. Porter, Genetics in the Madhouse: The Unknown History of Human Heredity

Julian Huxley and a biological approach to education in British East Africa during the interwar era

ABSTRACT During the 1930s there was a significant shift in the debate about African colonial education. Above all, somewhat discreetly hidden behind the formal language of the educational documents, is the question of the challenge presented to the traditional literary/religious missionary curriculum, or even to the adaptationist debate about African education, by the emergence of public polemic relating to the relevance of secular science education which explored issues of economic development, social welfare and social hygiene. This took place in the context of new understandings of issues like population growth, human heredity, evolution, health, eugenics and the challenges presented by the race doctrines of the fascist powers in Europe. Such issues were often hidden behind the rhetoric of “relevance” to family and community health and welfare, ecological best practices, and economic prosperity. This paper seeks to explore the first major initiative by the British Colonial Office relating to the reshaping of the African colonial school curriculum between 1929 and 1933. This attempted to extend developments relating to the extension of science education in general, and “a biological approach to education” in particular, to an educational context that had been dominated by Christian missionary education. It examines the processes by which such policy came to be initiated. It also raises obliquely broader questions relating to the linkages between social reform, eugenics, ideology and colonialism and in doing so attempts to add to the existing historiography on colonial education by referring to aspects of educational reform which seem to have been previously neglected.

Building blocks for better biorepositories in Africa

BackgroundBiorepositories archive and distribute well-characterized biospecimens for research to support the development of medical diagnostics and therapeutics. Knowledge of biobanking and associated practices is incomplete in low- and middle-income countries where disease burden is disproportionately high. In 2011, the African Society of Human Genetics (AfSHG), the National Institutes of Health (NIH), and the Wellcome Trust founded the Human Heredity and Health in Africa (H3Africa) consortium to promote genomic research in Africa and established a network of three biorepositories regionally located in East, West, and Southern Africa to support biomedical research. This manuscript describes the processes established by H3Africa biorepositories to prepare research sites to collect high-quality biospecimens for deposit at H3Africa biorepositories.MethodsThe biorepositories harmonized practices between the biorepositories and the research sites. The biorepositories developed guidelines to establish best practices and define biospecimen requirements; standard operating procedures (SOPs) for common processes such as biospecimen collection, processing, storage, transportation, and documentation as references; requirements for minimal associated datasets and formats; and a template material transfer agreements (MTA) to govern biospecimen exchange. The biorepositories also trained and mentored collection sites in relevant biobanking processes and procedures and verified biospecimen deposit processes. Throughout these procedures, the biorepositories followed ethical and legal requirements.ResultsThe 20 research projects deposited 107,982 biospecimens (76% DNA, 81,067), in accordance with the ethical and legal requirements and established best practices. The biorepositories developed and customized resources and human capacity building to support the projects. [The biorepositories developed 34 guidelines, SOPs, and documents; trained 176 clinicians and scientists in over 30 topics; sensitized ethical bodies; established MTAs and reviewed consent forms for all projects; attained import permits; and evaluated pilot exercises and provided feedback.ConclusionsBiobanking in low- and middle-income countries by local skilled staff is critical to advance biobanking and genomic research and requires human capacity and resources for global partnerships. Biorepositories can help build human capacity and resources to support biobanking by partnering with researchers. Partnerships can be structured and customized to incorporate document development, ethics, training, mentorship, and pilots to prepare sites to collect, process, store, and transport biospecimens of high quality for future research.

Developing Clinical Phenotype Data Collection Standards for Research in Africa.

Modern biomedical research is characterised by its high-throughput and interdisciplinary nature. Multiproject and consortium-based collaborations requiring meaningful analysis of multiple heterogeneous phenotypic datasets have become the norm; however, such analysis remains a challenge in many regions across the world. An increasing number of data harmonisation efforts are being undertaken by multistudy collaborations through either prospective standardised phenotype data collection or retrospective phenotype harmonisation. In this regard, the Phenotype Harmonisation Working Group (PHWG) of the Human Heredity and Health in Africa (H3Africa) consortium aimed to facilitate phenotype standardisation by both promoting the use of existing data collection standards (hosted by PhenX), adapting existing data collection standards for appropriate use in low- and middle-income regions such as Africa, and developing novel data collection standards where relevant gaps were identified. Ultimately, the PHWG produced 11 data collection kits, consisting of 82 protocols, 38 of which were existing protocols, 17 were adapted, and 27 were novel protocols. The data collection kits will facilitate phenotype standardisation and harmonisation not only in Africa but also across the larger research community. In addition, the PHWG aims to feed back adapted and novel protocols to existing reference platforms such as PhenX.

Book Review: Elise K. Burton, Genetic Crossroads—The Middle East and the Science of Human Heredity, Stanford, California: Stanford University Press, 2021.

Genetic Crossroads—The Middle East and the Science of Human Heredity is of interest to anyone doing research in genetics, race and nation, colonial history, and medical anthropology. Elise Burton’s work includes useful additional material, such as a list of abbreviations, a note on transliteration, acknowledgements, endnotes, a bibliography, and an index. This all complements three separate but connected parts of her arguments.

:Genetic Crossroads: The Middle East and the Science of Human Heredity

Previous articleNext article No AccessRecentElise K. Burton. Genetic Crossroads: The Middle East and the Science of Human Heredity. 400 pp., notes, bibl., index. Stanford, Calif.: Stanford University Press, 2021. $30 (paper); ISBN 9781503611917. Cloth and e-book available.Edna Suárez-DíazEdna Suárez-Díaz Search for more articles by this author PDFPDF PLUSFull Text Add to favoritesDownload CitationTrack CitationsPermissionsReprints Share onFacebookTwitterLinkedInRedditEmail SectionsMoreDetailsFiguresReferencesCited by Isis Volume 114, Number 1March 2023 Publication of the History of Science Society Article DOIhttps://doi.org/10.1086/723384 Views: 44Total views on this site For permission to reuse, please contact [email protected]PDF download Crossref reports no articles citing this article.

Health Equity in Sickle Cell Research and Access to Therapy

Health Equity in Sickle Cell Research and Access to Therapy

Cardiovascular Risk Factor Burden and Association With CKD in Ghana and Nigeria

Cardiovascular disease is the leading cause of morbidity and mortality in patients with chronic kidney disease (CKD); however, the burden of cardiovascular risk factors in patients with CKD in Africa is not well characterized. We determined the prevalence of selected cardiovascular risk factors, and association with CKD in the Human Heredity for Health in Africa Kidney Disease Research Network study. We recruited patients with and without CKD in Ghana and Nigeria. CKD was defined as estimated glomerular filtration rate of<60 ml/min per 1.73 m2 and/or albuminuria as albumin-to-creatinine ratio<3.0 mg/mmol (<30 mg/g) for≥3 months. We assessed self-reported (physician-diagnosis and/or use of medication) hypertension, diabetes, and elevated cholesterol; and self-reported smoking as cardiovascular risk factors. Association between the risk factors and CKD was determined by multivariate logistic regression. We enrolled 8396 participants (cases with CKD, 3956), with 56% females. The mean age (45.5 ± 15.1 years) did not differ between patients and control group. The prevalence of hypertension (59%), diabetes (20%), and elevated cholesterol (9.9%), was higher in CKD patients than in the control participants (P< 0.001). Prevalence of risk factors was higher in Ghana than in Nigeria. Hypertension (adjusted odds ratio [aOR]= 1.69 [1.43-2.01, P< 0.001]), elevated cholesterol (aOR= 2.0 [1.39-2.86, P< 0.001]), age >50 years, and body mass index (BMI)<18.5 kg/m2 were independently associated with CKD. The association of diabetes and smoking with CKD was modified by other risk factors. Cardiovascular risk factors are prevalent in middle-aged adult patients with CKD in Ghana and Nigeria, with higher proportions in Ghana than in Nigeria. Hypertension, elevated cholesterol, and underweight were independently associated with CKD.

Nationalism and Genes in the Middle East - Ian McGonigle, Genomic Citizenship. The Molecularization of Identity in the Contemporary Middle East (Cambridge, Mass., MIT Press, 2021, 220 p.) - Elise Burton, Genetic Crossroads: The Middle East and the Science of Human Heredity (Redwood City, Cal., Stanford University Press, 2021, 400 p.)

Nationalism and Genes in the Middle East - Ian McGonigle, Genomic Citizenship. The Molecularization of Identity in the Contemporary Middle East (Cambridge, Mass., MIT Press, 2021, 220 p.) - Elise Burton, Genetic Crossroads: The Middle East and the Science of Human Heredity (Redwood City, Cal., Stanford University Press, 2021, 400 p.) - Volume 63 Issue 3

Leveraging H3Africa Scholarly Publications for Technology-Enhanced Personalized Bioinformatics Education

The Coronavirus Disease 2019 (COVID-19) pandemic has catalyzed the expectations for technology-enhanced interactions with personalized educational materials. Adjusting the content of educational materials to the geographical location of a learner is a customization feature of personalized education and is used to develop the interest of a learner in the content. The educational content of interest in this report is bioinformatics, in which the knowledge spans biological science and applied mathematics disciplines. The Human Heredity and Health in Africa (H3Africa) Initiative is a resource suitable for use when obtaining data and peer-reviewed scholarly articles, which are geographically relevant and focus on authentic problem solving in the human health domain. We developed a computerized platform of interactive visual representations of curated bioinformatics datasets from H3Africa projects, which also supports customization, individualization and adaptation features of personalized education. We obtained evidence for the positive effect size and acceptable usability of a visual analytics resource designed for the retrieval-based learning of facts on functional impacts of genomic sequence variants. We conclude that technology-enhanced personalized bioinformatics educational interventions have implications in (1) the meaningful learning of bioinformatics; (2) stimulating additional student interest in bioinformatics; and (2) improving the accessibility of bioinformatics education to non-bioinformaticians.

Early childhood wheezing phenotypes and determinants in a South African birth cohort: longitudinal analysis of the Drakenstein Child Health Study

Developmental trajectories of childhood wheezing in low-income and middle-income countries (LMICs) have not been well described. We aimed to derive longitudinal wheeze phenotypes from birth to 5 years in a South African birth cohort and compare those with phenotypes derived from a UK cohort. We used data from the Drakenstein Child Health Study (DCHS), a longitudinal birth cohort study in a peri-urban area outside Cape Town, South Africa. Pregnant women (aged ≥18 years) were enrolled during their second trimester at two public health clinics. We followed up children from birth to 5 years to derive six multidimensional indicators of wheezing (including duration, temporal sequencing, persistence, and recurrence) and applied Partition Around Medoids clustering to derive wheeze phenotypes. We compared phenotypes with a UK cohort (the Avon Longitudinal Study of Parents and Children [ALSPAC]). We investigated associations of phenotypes with early-life exposures, including all-cause lower respiratory tract infection (LRTI) and virus-specific LRTI (respiratory syncytial virus, rhinovirus, adenovirus, influenza, and parainfluenza virus) up to age 5 years. We investigated the association of phenotypes with lung function at 6 weeks and 5 years. Between March 5, 2012, and March 31, 2015, we enrolled 1137 mothers and there were 1143 livebirths. Four wheeze phenotypes were identified among 950 children with complete data: never (480 children [50%]), early transient (215 children [23%]), late onset (104 children [11%]), and recurrent (151 children [16%]). Multivariate adjusted analysis indicated that LRTI and respiratory syncytial virus-LRTI, but not other respiratory viruses, were associated with increased risk of recurrent wheeze (odds ratio [OR] 2·79 [95% CI 2·05-3·81] for all LTRIs; OR 2·59 [1·30-5·15] for respiratory syncytial virus-LRTIs). Maternal smoking (1·88 [1·12-3·02]), higher socioeconomic status (2·46 [1·23-4·91]), intimate partner violence (2·01 [1·23-3·29]), and male sex (2·47 [1·50-4·04]) were also associated with recurrent wheeze. LRTI and respiratory syncytial virus-LRTI were also associated with early transient and late onset clusters. Wheezing illness architecture differed between DCHS and ALSPAC; children included in ALSPAC in the early transient cluster wheezed for a longer period before remission and late-onset wheezing started at an older age, and no persistent phenotype was identified in DCHS. At 5 years, airway resistance was higher in children with early or recurrent wheeze compared with children who had never wheezed. Airway resistance increased from 6 weeks to 5 years among children with recurrent wheeze. Effective strategies to reduce maternal smoking and psychosocial stressors and new preventive interventions for respiratory syncytial virus are urgently needed to optimise child health in LMICs. UK Medical Research Council; The Bill & Melinda Gates Foundation; National Institutes of Health Human Heredity and Health in Africa; South African Medical Research Council; Wellcome Trust.

Heredity under the Microscope: Chromosomes and the Study of the Human Genome by Soraya de Chadarevian (review).

Reviewed by: Heredity under the Microscope: Chromosomes and the Study of the Human Genome by Soraya de Chadarevian Miguel García-Sancho Soraya de Chadarevian. Heredity under the Microscope: Chromosomes and the Study of the Human Genome. Chicago: University of Chicago Press, 2020. 272 pp. Ill. $37.50 (978-0-226-68511-3). In Heredity under the Microscope, Soraya de Chadarevian complements the picture of post-World War II biomedicine that she uncovered in her previous book, Designs for Life: Molecular Biology after World War II.1 Unlike in her earlier monograph, here she focuses on chromosomes as spaces of convergence of several lines of inquiry. This focus on research objects rather than disciplinary developments leads her to investigate a variety of practices that life scientists deployed to visualize and [End Page 466] interpret human chromosomes. The diversity of disciplinary backgrounds of these scientists and the multiplicity of uses to which their chromosome practices were put enable the author to expand the historiographical boundaries of both molecular biology and genetics research. Firstly, de Chadarevian disentangles “the study of postwar human heredity from the predominant concern about continuities with eugenic practices” (p. 5). The book does not limit itself to documenting the invention of karyotyping techniques to represent and detect anomalies in human chromosomes; it follows their standardization and spread, including their use as evidence of safe levels of radiation in the workplace (chapter 1) or sex assignment in the Olympic games (chapter 3). The emphasis on these uses, departed as they were from scientific theories about population improvement, displaces eugenics as the dominant interpretative framework of the history of human genetics. Secondly, the book presents chromosomes as showing “historical commonalities” (p. 177) between two approaches that have been traditionally considered as separate: molecular genetics and microscope-assisted chromosome observations. De Chadarevian stresses how these two approaches emerged as a consequence of the key role that nuclear research had played during World War II and the search of peacetime applications. Radioactive isotopes decisively fostered molecular biology, while the investigation of the effects of radiation was a crucial concern of human and medical geneticists using chromosome observations (chapter 1). Both molecular biologists and chromosome researchers also attempted to apply computers to their investigations, the former as an aid to the structural study of proteins and DNA, and the latter to automate the interpretation of karyotype images (chapter 4). However, whereas molecular biologists focused on simpler organisms, chromosome researchers engaged with both human populations and patients in the clinic. Radiation-induced leukemia was their first focus for then rapidly shifting to other conditions (especially those affecting mental abilities and sex identity) and larger-scale epidemiological studies (chapters 2 and 4). The 1960s, a decade that historians have dubbed the golden age of molecular biology,2 was also a time of expansion of chromosome observations. From the mid-1970s onward, molecular biologists turned to human subjects in order to realize the medical promise of the new recombinant DNA techniques. It is at this point when the intersection with chromosome research becomes more visible and de Chadarevian wonders “whose turn” this represents in history, a molecularization of human genetics or a humanization of molecular biology (pp. 171–76). Although subsequent success stories have put the emphasis on molecular biology, chapter 5 shows the importance of chromosome research as a key tool for gene mapping and the emergence of the human genome as an object of study. Even in the so-called post-genomic era, chromosome observations are [End Page 467] essential to clinically interpret the molecular sequence data derived from the Human Genome Project. Overall, the book offers a most welcomed framework to address the coexistence of chromosome observations and molecular biology, and their importance in genomics research. Understanding this is a pressing historiographical problem, given the dominance of molecular biologists in existing narratives and the apparent revival of chromosome research. There is yet still work to do in exploring specific overlaps between the visual and molecular approaches to the genome. A potential candidate is Victor McKusick, a main actor in de Chadarevian’s account and a co-author of the article in which Celera Genomics presented one of the draft sequences of the human...

The Concept of Fitrah as a Paradigm of Islamic Education: Perspective of The Quran

This study aims to describe the concept of fitrah as a paradigm of Islamic education according to the Koran. This qualitative research uses the descriptive-analytical method. All data from written materials related to the variables will be discussed and relevant. The concept of fitrah is a character, temperament, origin, religion, and all inherent potential, which is a gift from Allah Swt. Every human child born from his mother’s womb will always be accompanied by nature as the basis for personality formation in living his life. Human psychological components related to nature include human structure (physical, spiritual, nafsani, heart, reason, and lust), al-hayah (vitality), al-khuluq (character), al-sajiah (skills or talents), heredity (heredity), intuition (the ability to receive inspiration from god) and al-amal (behavior).

Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data

BackgroundCopy number variants (CNVs) play a significant role in human heredity and disease. However, sensitive and specific characterization of germline CNVs from NGS data has remained challenging, particularly for hybridization-capture data in which read counts are the primary source of copy number information.ResultsWe describe two algorithmic adaptations that improve CNV detection accuracy in a Hidden Markov Model (HMM) context. First, we present a method for computing target- and copy number-specific emission distributions. Second, we demonstrate that the Pointwise Maximum a posteriori (PMAP) HMM decoding procedure yields improved sensitivity for small CNV calls compared to the more common Viterbi HMM decoder. We develop a prototype implementation, called Cobalt, and compare it to other CNV detection tools using sets of simulated and previously detected CNVs with sizes spanning a single exon to a full chromosome.ConclusionsIn both the simulation and previously detected CNV studies Cobalt shows similar sensitivity but significantly fewer false positive detections compared to other callers. Overall sensitivity is 80–90% for deletion CNVs spanning 1–4 targets and 90–100% for larger deletion events, while sensitivity is somewhat lower for small duplication CNVs.

Blended collaboration problem-based learning to improve critical thinking ability and complete learning of students on human heredity materials

Based on the analysis at SMAN 36 in Biology learning, some students do have not optimal critical thinking skills and have not achieved minimum completeness. This can be seen in the lack of willingness to ask questions, involvement in opinion, and formulating problems does not reflect questions that use higher-order thinking. The study aims to determine the improvement of critical thinking skills and learning completeness of students in class XII MIPA 4 SMAN 36 Jakarta in human heredity. The method used is classroom action research which consists of two cycles through BCPBL. Learning is carried out with presentation discussions to explain the cases of each group which are prepared asynchronously. Data collecting by tests, observation of learning activities, and student response questionnaires. The research data were analyzed using a comparative description followed by reflection. The comparative description is done by comparing the initial condition data, cycles I and II, both for learning activities and learning outcomes. The results of this study indicate that BCPBL can improve critical thinking skills and complete learning from cycle I to cycle II. The results of the daily assessment in the first cycle showed that 28 students (77.78%) completed. The second cycle showed that 31 students (86.11%) completed it. Through BCPBL learning activities, students have an active learning experience, have interest, and respond as expected.

Racial anthropology in Turkey and transnational entanglements in the making of scientific knowledge: Seniha Tunakan’s academic trajectory, 1930s–1970s

This article situates the trajectory of the academic life of Seniha Tunakan (1908–2000) within the development of anthropology as a scientific discipline in Turkey and its transnational connections to Europe during the interwar period and up until the second half of the 20th century. Relying on the archives of the Max-Planck-Gesellschaft, the archive of the Humboldt-Universität zu Berlin, the Politisches Archiv des Auswärtigen Amtes in Germany, and the Prime Ministry's Republican Archives in Turkey, it focuses on the doctoral studies of Seniha Tunakan in Germany and her life as a female PhD researcher in the capital of the Third Reich, as well as her entire research career after her return to Turkey. Through Tunakan's career, the article also provides an analysis of the perpetuation of German race science in the Turkish context, shedding light upon the success of the Kaiser-Wilhelm-Institut für Anthropologie, menschliche Erblehre und Eugenik (Kaiser Wilhelm Institute for Anthropology, Human Heredity, and Eugenics) and its transnational impact.

1284-P: Genetic and Lifestyle Associations with Cardiometabolic Traits and Diabetes Risk Factors in Ethnically Diverse Africans

African ancestry populations are underrepresented in human genetic studies, which leaves a knowledge gap about genetic and environmental risk factors for metabolic disease which can bias healthcare treatment. To alleviate these shortcomings, we conducted a series of genome-wide association studies of cardiometabolic traits in a diverse sampling of ∼2,500 (max sample size) ethnically and geographically diverse Africans from populations practicing agriculturalist, hunter-gatherer, and pastoralist subsistence strategies. This study includes the Fulani pastoralists who have a relatively high incidence of adult-onset diabetes, despite having a low average body mass index (BMI) . All individuals in the present study are sampled from rural populations that have relatively homogeneous lifestyles and diet within a community. This unique aspect to the study cohort allows for within- and between- group comparisons to identify trait variation attributable to genetics vs. lifestyle variation. Subjects were genotyped on a new African-focused SNP array from the Human Heredity and Health in Africa (H3 Africa) consortium. Genome-wide data was imputed based on a panel of African whole-genome sequences and data from the 1000 genomes project, resulting in a total of million variants for trait association analysis. Genetic associations were tested for BMI, blood pressure, and blood biomarkers of cardiometabolic health. We checked for replication of genotype/phenotype associations by comparison to large non-African cohorts studied for the same traits. We find that most associations identified in non-African populations do not replicate in the Africans. However, we identified a number of novel loci associated with cardiometabolic traits in the African populations. This study has important implications for identifying genetic risk factors that may play a role in metabolic disease in individuals of African ancestry. Funded by ADA Pathway award 1-19-VSN-02. Disclosure D.Hui: None. T.B.Nyambo: None. S.Chanock: None. S.A.Tishkoff: None. D.Harris: None. M.Mcquillan: None. M.Hansen: None. A.Ranciaro: None. W.Beggs: None. S.W.Mpoloka: None. D.Woldemeskel: None. A.K.K.Njamnshi: None. Funding American Diabetes Association (1-19-VSN-02) ; National Institutes of Health (R35 GM134957-01, R01AR076241, 5T32DK007314-39, 1OT3HL142479-01, 1OT3HL142478-01, 1OT3HL142481-01, 1OT3HL142480-01, 1OT3HL147154-01)

The African Female Breast Cancer Epidemiology Study Protocol.

Breast cancer is now the commonest cancer in most sub-Saharan African countries. Few studies of the epidemiology and genomics of breast cancer and its molecular subtypes in these countries have been done. The African Female Breast Cancer Epidemiology (AFBRECANE) study, a part of the Human Heredity and Health in Africa (H3Africa) initiative, is designed to study the genomics and epidemiology of breast cancer and its molecular subtypes in Nigerian women. We link recruitment of breast cancer cases at study sites with population-based cancer registries activities to enable ascertainment of the incidence of breast cancer and its molecular subtypes. We use centralized laboratory processing to characterize the histopathological and molecular diagnosis of breast cancer and its subtypes using multiple technologies. By combining genome-wide association study (GWAS) data from this study with that generated from 12,000 women participating in our prospective cohort study of cervical cancer, we conduct GWAS of breast cancer in an entirely indigenous African population. We test associations between dietary intakes and breast cancer and focus on vitamin D which we measure using dietary intakes, serum vitamin D, and Mendelian randomization. This paper describes the AFBRECANE project, its design, objectives and anticipated contributions to knowledge and understanding of breast cancer.