The Framingham Heart Study is a long-term, ongoing cardiovascular cohort study of residents of the city of Framingham, Massachusetts. The study began in 1948 with 5,209 adult subjects from Framingham, and is now on its third generation of participants. Prior to the study almost nothing was known about the epidemiology of hypertensive or arteriosclerotic cardiovascular disease. Much of the now-common knowledge concerning heart disease, such as the effects of diet, exercise, and common medications such as aspirin, is based on this longitudinal study. It is a project of the National Heart, Lung, and Blood Institute, in collaboration with Boston University. Various health professionals from the hospitals and universities of Greater Boston staff the project.
Statistical genetics is a scientific field concerned with the development and application of statistical methods for drawing inferences from genetic data. The term is most commonly used in the context of human genetics. Research in statistical genetics generally involves developing theory or methodology to support research in one of three related areas:
In genetics, expressivity is the degree to which a phenotype is expressed by individuals having a particular genotype. Expressivity is related to the intensity of a given phenotype; it differs from penetrance, which refers to the proportion of individuals with a particular genotype that actually express the phenotype.
Van der Woude syndrome (VDWS) is a genetic disorder characterized by the combination of lower lip pits, cleft lip with or without cleft palate (CL/P), and cleft palate only (CPO). The frequency of orofacial clefts ranges from 1:1000 to 1:500 births worldwide, and there are more than 400 syndromes that involve CL/P. VWS is distinct from other clefting syndromes due to the combination of cleft lip and palate (CLP) and CPO within the same family. Other features frequently associated with VWS include hypodontia in 10-81% of cases, narrow arched palate, congenital heart disease, heart murmur and cerebral abnormalities, syndactyly of the hands, polythelia, ankyloglossia, and adhesions between the upper and lower gum pads.
Gene–environment interaction is when two different genotypes respond to environmental variation in different ways. A norm of reaction is a graph that shows the relationship between genes and environmental factors when phenotypic differences are continuous. They can help illustrate GxE interactions. When the norm of reaction is not parallel, as shown in the figure below, there is a gene by environment interaction. This indicates that each genotype responds to environmental variation in a different way. Environmental variation can be physical, chemical, biological, behavior patterns or life events.
Transcription factor MafB also known as V-maf musculoaponeurotic fibrosarcoma oncogene homolog B is a protein that in humans is encoded by the MAFB gene. This gene maps to chromosome 20q11.2-q13.1, consists of a single exon and spans around 3 kb.
Genetic epidemiology is the study of the role of genetic factors in determining health and disease in families and in populations, and the interplay of such genetic factors with environmental factors. Genetic epidemiology seeks to derive a statistical and quantitative analysis of how genetics work in large groups.
C677T or rs1801133 is a genetic variation—a single nucleotide polymorphism (SNP)—in the MTHFR gene.
Special AT-rich sequence-binding protein 2 (SATB2) also known as DNA-binding protein SATB2 is a protein that in humans is encoded by the SATB2 gene. SATB2 is a DNA-binding protein that specifically binds nuclear matrix attachment regions and is involved in transcriptional regulation and chromatin remodeling. SATB2 shows a restricted mode of expression and is expressed in certain cell nuclei. The SATB2 protein is mainly expressed in the epithelial cells of the colon and rectum, followed by the nuclei of neurons in the brain.
George Wills Comstock was a public health physician, epidemiologist, and educator. He was known for significant contributions to public health, specifically in the fields of micronutrient deficiencies, tuberculosis, and cardiovascular disease. He served as the editor-in-chief for the American Journal of Epidemiology.
"Envirome" is a concept that relates the core of environmental conditions with the successful biological performance of living beings. This concept was created in genetic epidemiology, in which an envirome is defined as the total set of environmental factors, both present, and past, that affect the state, and in particular the disease state, of an organism. The study of the envirome and its effects is termed enviromics. The term was first coined in the field of psychiatric epidemiology by J.C. Anthony in 1995. More recently, use of the term has been extended to the cellular domain, where cell functional enviromics studies both the genome and envirome from a systems biology perspective. In plants, enviromics is directly related to complex ecophysiology, in which the wide environment of the plants, into an omics scale, can be dissected and understood as a mosaic of possible growing factors and the balance of diverse resources available. In ecology, this concept can be related to the Shelford's law of tolerance. The enviromics is conceived as a pillar of the Modern Plant Breeding, capable to connect the design and development of breeding goals concealing it with the agronomic targets for a climate-smart agriculture. It also has the ability to bridge the knowledge gaps between the different levels of systems biology and phenomics in the context of Gene–environment interaction.
The Abney virus is a virus, isolated from an anal swab of a seventeen-month-old African-American child named Abney who, while living within the care of an institution began suffering an upper respiratory illness, which became a prototype strain of Orthoreovirus type 3. The virus was isolated in children, in Washington, from October 1955 to February 1956, 26 of the 34 children showed evidence of the reovirus Type 3 infection.
Josée Dupuis is a Canadian biostatistician. She is a professor in the Boston University School of Public Health, where she chairs the department of biostatistics. Her research interests include genome-wide association studies, gene–environment interaction, and applications to diabetes and cardiovascular disease.
Cohorts for Heart and Aging Research in Genomic Epidemiology, abbreviated CHARGE, is a consortium formed to facilitate meta-analyses of genome-wide association studies of aging and cardiovascular traits, and the replication of genotype–phenotype associations identified in such studies. CHARGE was initially launched in 2008 as a voluntary collaboration between five prospective cohort studies: the Age, Gene/Environment Susceptibility-Reykjavik Study (AGES) in Iceland, the Atherosclerosis Risk in Communities Study, the Cardiovascular Health Study, and the Framingham Heart Study in the United States, and the Rotterdam Study in the Netherlands. Other cohort studies have joined the consortium since its founding, including the Multi-Ethnic Study of Atherosclerosis and the Coronary Artery Risk Development in Young Adults Study. The organization of the consortium consists of a Research Steering Committee, an Analysis Committee, a Genotyping Committee, and roughly 35 phenotype-specific working groups.
Joan Ellen Bailey-Wilson is an American statistical geneticist. She is a senior investigator and co-chief of the Computational and Statistical Genomic Branch of the National Human Genome Research Institute.
The Strong Heart Study is an ongoing cohort study of cardiovascular disease (CVD) and its risk factors among American Indian men and women. The original cohort began in 1984 with 4,549 participants ages 35–74 from 13 tribal nations and communities in Arizona, Oklahoma, North Dakota, and South Dakota. The need for specific ethnic and cultural understanding and sensitivities was recognized from the onset, so the study has a community-based participatory research (CBPR) model. Community members were involved in all stages of conception, design, and implementation of the research. Now in its seventh phase, the extensive research has led to many important findings about heart disease and unique risk factors in native populations. It is a project funded by the National Heart, Lung, and Blood Institute (NHLBI). The study maintains field centers in Oklahoma, North and South Dakota, and Arizona and a coordinating center at the University of Oklahoma Health Sciences Center.
Tara Matise is an American geneticist at Rutgers University. Since 2018, she has served as chair of the Department of Genetics. Her research interests span computational genetics, data science, and human genetics. She is co-director of the Rutgers University Genetics Coordinating Center.
A Goldberg drum is a laboratory equipment used in the studies of aerosols. It was described by Leonard J. Goldberg from the Naval Biological Laboratory, School of Public Health, University of California, Berkeley, in 1958. It is used to contain airborne aerosols and particles.
Adebowale A. Adeyemo is a Nigerian physician-scientist and genetic epidemiologist specialized in genomics and cardiometabolic disorders. He is the deputy director and chief scientific officer of the Center for Research on Genomics and Global Health at the National Human Genome Research Institute.
Anne Magdalen Bahlke was an American physician, medical researcher, and public health official.
